VCV000209158.10 - ClinVar

NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(9)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)

Variation ID: 209158 Accession: VCV000209158.10

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 20q13.32 20: 58891760 (GRCh38) [ NCBI UCSC ] 20: 57466815 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Sep 29, 2015	Nov 24, 2024	Sep 20, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000516.7:c.34C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000507.1:p.Gln12Ter	nonsense
NM_016592.5:c.*43-3852C>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		intron variant
NM_080425.4:c.2069-3852C>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		intron variant
NM_000516.5:c.34C>T
NM_001077488.5:c.34C>T	NP_001070956.1:p.Gln12Ter	nonsense
NM_001077489.4:c.34C>T	NP_001070957.1:p.Gln12Ter	nonsense
NM_001077490.3:c.*1-3852C>T		intron variant
NM_001309840.2:c.-39+2407C>T		intron variant
NM_001309842.2:c.34C>T	NP_001296771.1:p.Gln12Ter	nonsense
NM_001309861.2:c.-38-3852C>T		intron variant
NM_001309883.1:c.*159-3852C>T		intron variant
NM_080426.4:c.34C>T	NP_536351.1:p.Gln12Ter	nonsense
NC_000020.11:g.58891760C>T
NC_000020.10:g.57466815C>T
NG_016194.2:g.57021C>T

... more HGVS ... less HGVS

Protein change

Q12*

Other names

Canonical SPDI

NC_000020.11:58891759:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA250351 dbSNP: rs797045046 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
GNAS		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	960	1117

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Pseudohypoparathyroidism Pseudopseudohypoparathyroidism	Pathogenic (1)	criteria provided, single submitter	Oct 7, 2014	RCV000191090.1
Inborn genetic diseases	Pathogenic (1)	criteria provided, single submitter	Mar 22, 2018	RCV001265981.2
Pseudopseudohypoparathyroidism	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Apr 6, 2022	RCV002051824.2
ACTH-independent macronodular adrenal hyperplasia 1 McCune-Albright syndrome Pituitary adenoma 3, multiple types Progressive osseous heteroplasia Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type I A Pseudopseudohypoparathyroidism	Pathogenic (1)	criteria provided, single submitter	Sep 11, 2021	RCV002503750.1
not provided	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Jul 13, 2024	RCV003556238.3
GNAS-related disorder	Pathogenic (1)	criteria provided, single submitter	Feb 3, 2023	RCV004530088.1
Pseudohypoparathyroidism type I A	Pathogenic (1)	criteria provided, single submitter	Sep 20, 2024	RCV004786518.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Oct 07, 2014)	criteria provided, single submitter (Yang et al. 2013) Method: clinical testing	Pseudohypoparathyroidism type 1A Pseudopseudohypoparathyroidism (Autosomal dominant inheritance) Affected status: unknown Allele origin: germline	Baylor Genetics Study: Adult_WES Accession: SCV000245487.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015	Publications: PubMed (4) PubMed: 26633545‚ 11092390‚ 21525160‚ 23533243 Comment: This variant has been previously reported as disease-causing and was found once in our laboratory de novo in a 21-year-old female with IUGR, mild motor … (more) This variant has been previously reported as disease-causing and was found once in our laboratory de novo in a 21-year-old female with IUGR, mild motor delay, intellectual disability, hearing loss, mild Tourette/tics, short stature, and irregular phalanges. (less) Number of individuals with the variant: 2 Zygosity: Homozygote, Single Heterozygote, Compound Heterozygote Age: 1-21 years Sex: mixed
Pathogenic (Mar 22, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Pseudopseudohypoparathyroidism Affected status: yes Allele origin: germline	3billion Accession: SCV002318828.1 First in ClinVar: Apr 02, 2022 Last updated: Apr 02, 2022	Publications: PubMed (1) PubMed: 11092390 Comment: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are … (more) Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant.It is not observed in the gnomAD v2.1.1 dataset. The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000209158, PMID:11092390). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less) Clinical Features: Brachydactyly (present) , Congenital hypothyroidism (present) , Seizure (present) , Hypocalcemia (present) , Intellectual disability (present) , Obesity (present) , Round face (present) , Short … (more) Brachydactyly (present) , Congenital hypothyroidism (present) , Seizure (present) , Hypocalcemia (present) , Intellectual disability (present) , Obesity (present) , Round face (present) , Short stature (present) , Short metacarpal (present) (less) Zygosity: Single Heterozygote
Pathogenic (Mar 22, 2018)	criteria provided, single submitter (Ambry exome assertion method (8-5-2015)) Method: clinical testing	Inborn genetic diseases Affected status: yes Allele origin: germline	Ambry Genetics Accession: SCV001444153.2 First in ClinVar: Nov 21, 2020 Last updated: Jan 07, 2023	Publications: PubMed (4) PubMed: 11092390‚ 23533243‚ 21525160‚ 27703483 Number of individuals with the variant: 1 Clinical Features: Obstructive sleep apnea syndrome (present) , Hypothyroidism (present) , Obesity (present) , Hypertelorism (present) , Short stature (present) , Polycystic ovaries (present) , Upslanted palpebral … (more) Obstructive sleep apnea syndrome (present) , Hypothyroidism (present) , Obesity (present) , Hypertelorism (present) , Short stature (present) , Polycystic ovaries (present) , Upslanted palpebral fissure (present) , Delayed speech and language development (present) , Brachymetatarsus 4 (present) , Short 4th finger (present) (less) Sex: female Ethnicity/Population group: Hispanic/Mexican
Pathogenic (Apr 06, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Pseudopseudohypoparathyroidism Affected status: unknown Allele origin: germline	Johns Hopkins Genomics, Johns Hopkins University Accession: SCV002570266.1 First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022	Publications: PubMed (3) PubMed: 11092390‚ 21525160‚ 23533243 Comment: This GNAS variant has been identified in multiple individuals with a clinical presentation consistent with a GNAS-related condition. It is absent from a large population … (more) This GNAS variant has been identified in multiple individuals with a clinical presentation consistent with a GNAS-related condition. It is absent from a large population dataset, and has been reported in ClinVar (Variation ID 209158). This nonsense variant results in a premature stop codon in exon 1 likely leading to nonsense-mediated decay and lack of protein production. We consider this variant to be pathogenic. (less)
Pathogenic (Sep 11, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Pseudohypoparathyroidism type I A Progressive osseous heteroplasia McCune-Albright syndrome ACTH-independent macronodular adrenal hyperplasia 1 Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudopseudohypoparathyroidism Pituitary adenoma 3, multiple types Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002796490.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Pathogenic (Feb 03, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	GNAS-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004115020.1 First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023	Comment: The GNAS c.34C>T variant is predicted to result in premature protein termination (p.Gln12). This variant has been reported in many individuals to be pathogenic for … (more) The GNAS c.34C>T variant is predicted to result in premature protein termination (p.Gln12). This variant has been reported in many individuals to be pathogenic for pseudohypoparathyroidism (PHP) or progressive osseous heteroplasia (POH); it was reported to have occurred de novo in multiple patients (Richard et al. 2013. PubMed ID: 23884777; Eddy et al. 2000. PubMed ID: 11092390; Salemi P et al 2018. PubMed ID: 29059381). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Nonsense variants in GNAS are expected to be pathogenic. In summary, this variant is interpreted as pathogenic GNAS-related disorders. (less)
Pathogenic (May 16, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV004298102.1 First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024	Publications: PubMed (11) PubMed: 11092390‚ 21525160‚ 23533243‚ 27703483‚ 29059381‚ 31886927‚ 33144682‚ 11784876‚ 23281139‚ 23796510‚ 25802881 Comment: For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 209158). This premature translational stop signal … (more) For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 209158). This premature translational stop signal has been observed in individual(s) with GNAS-related conditions (PMID: 11092390, 21525160, 23533243, 27703483, 29059381, 31886927, 33144682). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln12*) in the GNAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNAS are known to be pathogenic (PMID: 11784876, 23281139, 23796510, 25802881). (less)
Pathogenic (Jul 13, 2024)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV005078106.1 First in ClinVar: Jul 23, 2024 Last updated: Jul 23, 2024	Comment: Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of … (more) Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21525160, 11092390, 23533243, 27703483, 31886927, 33144682, 29059381) (less)
Pathogenic (Sep 20, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Pseudohypoparathyroidism type I A (Autosomal dominant inheritance) Affected status: yes Allele origin: germline	Victorian Clinical Genetics Services, Murdoch Childrens Research Institute Additional submitter: Shariant Australia, Australian Genomics Accession: SCV005400329.1 First in ClinVar: Nov 24, 2024 Last updated: Nov 24, 2024	Publications: PubMed (7) PubMed: 10980525‚ 11588148‚ 17164301‚ 23884777‚ 29059381‚ 29072892‚ 29379892 Comment: Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Both loss- and gain-of-function are known mechanisms … (more) Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Both loss- and gain-of-function are known mechanisms of disease for this gene. Loss-of-function has been associated with the hypoparathyroidism phenotypes (PMID: 10980525), while gain-of-function has been reported for somatic variants in cancers (PMID: 11588148). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0113 - This gene is known to be imprinted and the imprinting can be transcript dependent (OMIM, PMID: 23884777). (I) 0115 - Variants in this gene are known to have variable expressivity (PMID: 29072892). (I) 0204 - Variant is predicted to result in a truncated protein (premature termination codon is located within the first 102 nucleotides of the coding sequence and is predicted to escape nonsense-mediated decay). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other premature termination codon variants within the first 102 nucleotides comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER, PMID: 17164301). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been classified as pathogenic by multiple clinical laboratories in ClinVar, and has been observed in individuals with pseudohypoparathyroidism Ia and pseudopseudohypoparathyroidism (PMID: 29059381, 29379892). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed) (by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)

Comment:

This variant has been previously reported as disease-causing and was found once in our laboratory de novo in a 21-year-old female with IUGR, mild motor delay, intellectual disability, hearing loss, mild Tourette/tics, short stature, and irregular phalanges.

Comment:

Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant.It is not observed in the gnomAD v2.1.1 dataset. The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000209158, PMID:11092390). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

Comment:

This GNAS variant has been identified in multiple individuals with a clinical presentation consistent with a GNAS-related condition. It is absent from a large population dataset, and has been reported in ClinVar (Variation ID 209158). This nonsense variant results in a premature stop codon in exon 1 likely leading to nonsense-mediated decay and lack of protein production. We consider this variant to be pathogenic.

Comment:

The GNAS c.34C>T variant is predicted to result in premature protein termination (p.Gln12*). This variant has been reported in many individuals to be pathogenic for pseudohypoparathyroidism (PHP) or progressive osseous heteroplasia (POH); it was reported to have occurred de novo in multiple patients (Richard et al. 2013. PubMed ID: 23884777; Eddy et al. 2000. PubMed ID: 11092390; Salemi P et al 2018. PubMed ID: 29059381). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Nonsense variants in GNAS are expected to be pathogenic. In summary, this variant is interpreted as pathogenic GNAS-related disorders.

Comment:

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 209158). This premature translational stop signal has been observed in individual(s) with GNAS-related conditions (PMID: 11092390, 21525160, 23533243, 27703483, 29059381, 31886927, 33144682). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln12*) in the GNAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNAS are known to be pathogenic (PMID: 11784876, 23281139, 23796510, 25802881).

Comment:

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21525160, 11092390, 23533243, 27703483, 31886927, 33144682, 29059381)

Comment:

Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Both loss- and gain-of-function are known mechanisms of disease for this gene. Loss-of-function has been associated with the hypoparathyroidism phenotypes (PMID: 10980525), while gain-of-function has been reported for somatic variants in cancers (PMID: 11588148). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0113 - This gene is known to be imprinted and the imprinting can be transcript dependent (OMIM, PMID: 23884777). (I) 0115 - Variants in this gene are known to have variable expressivity (PMID: 29072892). (I) 0204 - Variant is predicted to result in a truncated protein (premature termination codon is located within the first 102 nucleotides of the coding sequence and is predicted to escape nonsense-mediated decay). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other premature termination codon variants within the first 102 nucleotides comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER, PMID: 17164301). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been classified as pathogenic by multiple clinical laboratories in ClinVar, and has been observed in individuals with pseudohypoparathyroidism Ia and pseudopseudohypoparathyroidism (PMID: 29059381, 29379892). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed) (by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Impact of integrated translational research on clinical exome sequencing.	Klee EW	Genetics in medicine : official journal of the American College of Medical Genetics	2021	PMID: 33144682
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.	Snanoudj S	Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research	2020	PMID: 31886927
Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.	Salemi P	The Journal of clinical endocrinology and metabolism	2018	PMID: 29059381
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.	Sano S	Journal of the Endocrine Society	2017	PMID: 29379892
Disorders of GNAS Inactivation.	Adam MP	-	2017	PMID: 29072892
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?	Kashani P	Case reports in medicine	2016	PMID: 27703483
Molecular diagnostic experience of whole-exome sequencing in adult patients.	Posey JE	Genetics in medicine : official journal of the American College of Medical Genetics	2016	PMID: 26633545
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.	Thiele S	Molecular genetics & genomic medicine	2015	PMID: 25802881
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.	Richard N	The Journal of clinical endocrinology and metabolism	2013	PMID: 23884777
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.	Elli FM	Bone	2013	PMID: 23796510
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.	Fernández-Rebollo E	The Journal of clinical endocrinology and metabolism	2013	PMID: 23533243
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.	Elli FM	Human mutation	2013	PMID: 23281139
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.	Joseph AW	The Journal of clinical endocrinology and metabolism	2011	PMID: 21525160
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.	Long DN	The Journal of clinical endocrinology and metabolism	2007	PMID: 17164301
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.	Shore EM	The New England journal of medicine	2002	PMID: 11784876
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.	Weinstein LS	Endocrine reviews	2001	PMID: 11588148
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.	Eddy MC	Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research	2000	PMID: 11092390
Activating and inactivating mutations in the human GNAS1 gene.	Aldred MA	Human mutation	2000	PMID: 10980525
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Text-mined citations for rs797045046 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jan 13, 2025

ClinVar Genomic variation as it relates to human health

NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs797045046 ...