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NM_000257.4(MYH7):c.1216G>A (p.Val406Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 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:
RCV002359259.2

Allele description [Variation Report for NM_000257.4(MYH7):c.1216G>A (p.Val406Met)]

NM_000257.4(MYH7):c.1216G>A (p.Val406Met)

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.1216G>A (p.Val406Met)
HGVS:
  • NC_000014.9:g.23429270C>T
  • NG_007884.1:g.11392G>A
  • NM_000257.4:c.1216G>AMANE SELECT
  • NP_000248.2:p.Val406Met
  • LRG_384t1:c.1216G>A
  • LRG_384:g.11392G>A
  • NC_000014.8:g.23898479C>T
  • NM_000257.2:c.1216G>A
Protein change:
V406M
Links:
dbSNP: rs1422611896
NCBI 1000 Genomes Browser:
rs1422611896
Molecular consequence:
  • NM_000257.4:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002655487Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 22, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.

Greber-Platzer S, Marx M, Fleischmann C, Suppan C, Dobner M, Wimmer M.

J Mol Cell Cardiol. 2001 Jan;33(1):141-8.

PubMed [citation]
PMID:
11133230

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

PubMed [citation]
PMID:
27532257
PMCID:
PMC5116235

Details of each submission

From Ambry Genetics, SCV002655487.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.V406M variant (also known as c.1216G>A), located in coding exon 11 of the MYH7 gene, results from a G to A substitution at nucleotide position 1216. The valine at codon 406 is replaced by methionine, an amino acid with highly similar properties. This alteration segregate with hypertrophic cardiomyopathy (HCM) in a mother and her two children. Her third affected child died suddenly and did not have molecular testing (Greber-Platzer S et al. J. Mol. Cell. Cardiol., 2001 Jan;33:141-8). In addition, this alteration was reported in one individual referred for molecular testing of HCM (Walsh R et al. Genet. Med., 2017 Feb;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 alteration remains unclear.

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

Last Updated: Sep 29, 2024