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NM_002074.5(GNB1):c.230G>A (p.Gly77Asp) AND Intellectual disability

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 25, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001293362.2

Allele description [Variation Report for NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)]

NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)

Gene:
GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)
HGVS:
  • NC_000001.11:g.1806512C>T
  • NG_047052.1:g.89606G>A
  • NM_001282538.2:c.-71G>A
  • NM_001282539.2:c.230G>A
  • NM_002074.5:c.230G>AMANE SELECT
  • NP_001269468.1:p.Gly77Asp
  • NP_002065.1:p.Gly77Asp
  • NC_000001.10:g.1737951C>T
  • NM_002074.3:c.230G>A
  • NM_002074.4:c.230G>A
Protein change:
G77D
Links:
dbSNP: rs1135401746
NCBI 1000 Genomes Browser:
rs1135401746
Molecular consequence:
  • NM_001282538.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282539.2:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002074.5:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001481813Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 25, 2021) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001481813.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)

Description

The variant chr1-1737951-C-T, GNB1(NM_002074.5):c.230G>A,p.(Gly77Asp) was identified in an individual with NDD. Inheritance was de novo (heterozygous). The variant was reviewed according to current ACMG recommendations and classified as Likely Pathogenic (criteria: PS2_Moderate, PS4_Supporting, PM2_Supporting, PM5_Moderate, PP2_Supporting, PP3_Supporting).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024