NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 2015
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:: RCV000208526.2

Allele description [Variation Report for NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)]

NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

Preferred name:

NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)

HGVS:

NC_000010.11:g.74107263G>A
NG_008868.1:g.114150G>A
NM_003373.4:c.2468G>A
NM_014000.3:c.2468G>AMANE SELECT
NP_003364.1:p.Arg823Gln
NP_054706.1:p.Arg823Gln
NP_054706.1:p.Arg823Gln
LRG_383t1:c.2468G>A
LRG_383:g.114150G>A
LRG_383p1:p.Arg823Gln
NC_000010.10:g.75867021G>A
NM_014000.2:c.2468G>A

Protein change:

R823Q

Links:

dbSNP: rs759202535

NCBI 1000 Genomes Browser:

rs759202535

Molecular consequence:

NM_003373.4:c.2468G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014000.3:c.2468G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:: Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:: MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264317	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Uncertain significance (Sep 14, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264317

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Uncertain significance
(Sep 14, 2015)

germline

clinical testing

Citation Link

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

Details of each submission

From Blueprint Genetics, SCV000264317.2

#	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

Last Updated: Apr 15, 2024

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