NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) AND Cardiovascular phenotype

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 11, 2022
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:: RCV002418240.3

Allele description [Variation Report for NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)]

NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)

HGVS:

NC_000009.12:g.127854349G>A
NG_009551.1:g.5420C>T
NM_000118.4:c.7C>T
NM_001114753.3:c.7C>TMANE SELECT
NM_001406715.1:c.7C>T
NP_000109.1:p.Arg3Cys
NP_000109.1:p.Arg3Cys
NP_001108225.1:p.Arg3Cys
NP_001108225.1:p.Arg3Cys
NP_001393644.1:p.Arg3Cys
LRG_589t1:c.7C>T
LRG_589t2:c.7C>T
LRG_589:g.5420C>T
LRG_589p1:p.Arg3Cys
LRG_589p2:p.Arg3Cys
NC_000009.11:g.130616628G>A
NM_000118.2:c.7C>T
NM_000118.3:c.7C>T
NM_001114753.1:c.7C>T
NM_001114753.2:c.7C>T

Protein change:

R3C

Links:

dbSNP: rs139334561

NCBI 1000 Genomes Browser:

rs139334561

Molecular consequence:

NM_000118.4:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002678760	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Jan 11, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25312062, 32573726 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002678760

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Jan 11, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

Mallet C, Lamribet K, Giraud S, Dupuis-Girod S, Feige JJ, Bailly S, Tillet E.

Hum Mol Genet. 2015 Feb 15;24(4):1142-54. doi: 10.1093/hmg/ddu531. Epub 2014 Oct 13.

PubMed [citation]

PMID:: 25312062

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.

Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.

PubMed [citation]

PMID:: 32573726
PMCID:: PMC7717479

Details of each submission

From Ambry Genetics, SCV002678760.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Oct 20, 2024

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