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NM_014000.3(VCL):c.2801C>T (p.Ala934Val) AND Cardiomyopathy

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 19, 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:
RCV000769116.10

Allele description [Variation Report for NM_014000.3(VCL):c.2801C>T (p.Ala934Val)]

NM_014000.3(VCL):c.2801C>T (p.Ala934Val)

Gene:
VCL:vinculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_014000.3(VCL):c.2801C>T (p.Ala934Val)
Other names:
p.A934V:GCC>GTC
HGVS:
  • NC_000010.11:g.74111964C>T
  • NG_008868.1:g.118851C>T
  • NM_003373.4:c.2746-2220C>T
  • NM_014000.3:c.2801C>TMANE SELECT
  • NP_054706.1:p.Ala934Val
  • NP_054706.1:p.Ala934Val
  • LRG_383t1:c.2801C>T
  • LRG_383:g.118851C>T
  • LRG_383p1:p.Ala934Val
  • NC_000010.10:g.75871722C>T
  • NM_014000.2:c.2801C>T
  • P18206:p.Ala934Val
  • c.2801C>T
Protein change:
A934V
Links:
UniProtKB: P18206#VAR_035102; dbSNP: rs16931179
NCBI 1000 Genomes Browser:
rs16931179
Molecular consequence:
  • NM_003373.4:c.2746-2220C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014000.3:c.2801C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000900490CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Nov 19, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900490.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024