NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Feb 29, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001531114.31

Allele description [Variation Report for NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)]

NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)

Other names:

NM_001114753.3(ENG):c.991G>A

HGVS:

NC_000009.12:g.127824800C>T
NG_009551.1:g.34969G>A
NM_000118.4:c.991G>A
NM_001114753.3:c.991G>AMANE SELECT
NM_001278138.2:c.445G>A
NM_001406715.1:c.991G>A
NP_000109.1:p.Gly331Ser
NP_000109.1:p.Gly331Ser
NP_001108225.1:p.Gly331Ser
NP_001108225.1:p.Gly331Ser
NP_001265067.1:p.Gly149Ser
NP_001393644.1:p.Gly331Ser
LRG_589t1:c.991G>A
LRG_589t2:c.991G>A
LRG_589:g.34969G>A
LRG_589p1:p.Gly331Ser
LRG_589p2:p.Gly331Ser
NC_000009.11:g.130587079C>T
NM_000118.2:c.991G>A
NM_000118.3:c.991G>A
NM_001114753.1:c.991G>A
NM_001114753.2:c.991G>A
NM_001114753.2:c.991G>A

Protein change:

G149S

Links:

dbSNP: rs1060501410

NCBI 1000 Genomes Browser:

rs1060501410

Molecular consequence:

NM_000118.4:c.991G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.991G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.991G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001746085	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jun 1, 2021)	germline	clinical testing	Citation Link,
SCV001805554	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 26, 2023)	germline	clinical testing	Citation Link,
SCV004226811	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 29, 2024)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 15517393, 16690726, 19767588, 22991266, 24196379, 25970827, 29171923, 32573726, 34872578, 34880085, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001746085

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Jun 1, 2021)

germline

clinical testing

Citation Link,

SCV001805554

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 26, 2023)

germline

clinical testing

Citation Link,

SCV004226811

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 29, 2024)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK.

Hum Genet. 2005 Jan;116(1-2):8-16. Epub 2004 Oct 23.

PubMed [citation]

PMID:: 15517393

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M.

J Med Genet. 2006 Sep;43(9):722-8. Epub 2006 May 11.

PubMed [citation]

PMID:: 16690726
PMCID:: PMC2564570

See all PubMed Citations (11)

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001746085.21

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From GeneDx, SCV001805554.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed in large population cohorts (gnomAD); Functional studies and in silico splice prediction algorithms suggest that the c.991 G>A variant, which affects the last nucleotide of exon 7, damages the natural splice donor site for intron 7 and leads to skipping of exon 7 (Prigoda et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24196379, 19767588, 15517393, 25970827, 16752392, 17384219, 29171923, 22991266, 16690726, 26582918, 34880085, 34872578, 32573726)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226811.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

PP3, PM2, PS3_moderate, PS4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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