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NM_000257.4(MYH7):c.2882T>G (p.Leu961Arg) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2018
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:
RCV000249682.4

Allele description [Variation Report for NM_000257.4(MYH7):c.2882T>G (p.Leu961Arg)]

NM_000257.4(MYH7):c.2882T>G (p.Leu961Arg)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.2882T>G (p.Leu961Arg)
HGVS:
  • NC_000014.9:g.23423947A>C
  • NG_007884.1:g.16715T>G
  • NM_000257.4:c.2882T>GMANE SELECT
  • NP_000248.2:p.Leu961Arg
  • LRG_384t1:c.2882T>G
  • LRG_384:g.16715T>G
  • NC_000014.8:g.23893156A>C
  • NM_000257.2:c.2882T>G
Protein change:
L961R
Links:
dbSNP: rs727504374
NCBI 1000 Genomes Browser:
rs727504374
Molecular consequence:
  • NM_000257.4:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000320482Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 20, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.

Curila K, Benesova L, Penicka M, Minarik M, Zemanek D, Veselka J, Widimsky P, Gregor P.

Acta Cardiol. 2012 Feb;67(1):23-9.

PubMed [citation]
PMID:
22455086

Details of each submission

From Ambry Genetics, SCV000320482.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.L961R variant (also known as c.2882T>G), located in coding exon 21 of the MYH7 gene, results from a T to G substitution at nucleotide position 2882. The leucine at codon 961 is replaced by arginine, an amino acid with dissimilar properties. This variant has been reported in one individual reported to have hypertrophic cardiomyopathy (HCM) (Curila K, et al. Acta Cardiol 2012;67(1):23-9). Other alterations affecting the same amino acid, p.L961P (c.2882T>C) and p.L961V (c.2881C>G), have been reported in association with HCM (Bainbridge MN et al. Circ Cardiovasc Genet, 2015 Aug;8:544-52; Walsh R et al. Genet. Med. 2017;19:192-203).This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024