NM_014000.3(VCL):c.1907A>G (p.His636Arg) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 12, 2019
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:: RCV000252819.4

Allele description [Variation Report for NM_014000.3(VCL):c.1907A>G (p.His636Arg)]

NM_014000.3(VCL):c.1907A>G (p.His636Arg)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_014000.3(VCL):c.1907A>G (p.His636Arg)

Other names:

p.H636R:CAT>CGT

HGVS:

NC_000010.11:g.74100982A>G
NG_008868.1:g.107869A>G
NM_003373.4:c.1907A>G
NM_014000.3:c.1907A>GMANE SELECT
NP_003364.1:p.His636Arg
NP_054706.1:p.His636Arg
NP_054706.1:p.His636Arg
LRG_383t1:c.1907A>G
LRG_383:g.107869A>G
LRG_383p1:p.His636Arg
NC_000010.10:g.75860740A>G
NM_014000.2:c.1907A>G
c.1907A>G

Protein change:

H636R

Links:

dbSNP: rs71579374

NCBI 1000 Genomes Browser:

rs71579374

Molecular consequence:

NM_003373.4:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014000.3:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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1700016J18Rik RIKEN cDNA 1700016J18 gene [Mus musculus]
1700016J18Rik RIKEN cDNA 1700016J18 gene [Mus musculus]
Gene ID:75561

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000318533	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Apr 12, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 20474083, 23861362, 24503780, 25351510, 26656175 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318533

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Apr 12, 2019)

germline

clinical testing

PubMed (5)
[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

A novel custom resequencing array for dilated cardiomyopathy.

Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH.

Genet Med. 2010 May;12(5):268-78. doi: 10.1097/GIM.0b013e3181d6f7c0.

PubMed [citation]

PMID:: 20474083
PMCID:: PMC3018746

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]

PMID:: 23861362
PMCID:: PMC3887521

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000318533.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This alteration is classified as likely 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 26, 2024

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