U.S. flag

An official website of the United States government

NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) AND Cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 5, 2023
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:
RCV001190251.4

Allele description [Variation Report for NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)]

NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)

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.3169G>A (p.Gly1057Ser)
Other names:
NM_000257.3(MYH7):c.3169G>A; NM_000257.4(MYH7):c.3169G>A
HGVS:
  • NC_000014.9:g.23422256C>T
  • NG_007884.1:g.18406G>A
  • NM_000257.4:c.3169G>AMANE SELECT
  • NP_000248.2:p.Gly1057Ser
  • LRG_384t1:c.3169G>A
  • LRG_384:g.18406G>A
  • NC_000014.8:g.23891465C>T
  • NM_000257.2:c.3169G>A
  • NM_000257.3:c.3169G>A
  • P12883:p.Gly1057Ser
  • c.3169G>A
Protein change:
G1057S
Links:
UniProtKB: P12883#VAR_042821; dbSNP: rs397516179
NCBI 1000 Genomes Browser:
rs397516179
Molecular consequence:
  • NM_000257.4:c.3169G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001357702Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 5, 2023) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Aug 4;44(3):602-10.

PubMed [citation]
PMID:
15358028

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

Kapplinger JD, Landstrom AP, Bos JM, Salisbury BA, Callis TE, Ackerman MJ.

J Cardiovasc Transl Res. 2014 Apr;7(3):347-61. doi: 10.1007/s12265-014-9542-z. Epub 2014 Feb 8.

PubMed [citation]
PMID:
24510615
PMCID:
PMC4849132
See all PubMed Citations (10)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001357702.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

This missense variant replaces glycine with serine at codon 1057 in the neck and hinge domain (S2) domain of the MYH7 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over ten unrelated individuals affected with hypertrophic cardiomyopathy (PMID: 15358028, 27476098, 27532257, 30297972, 30847666, 31568572, 33029862, 33495596; DOI:10.1038/s41431-019-0404-7) or suspected to be affected with hypertrophic cardiomyopathy (PMID: 24510615). This variant has been identified in 2/251486 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

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

Last Updated: Aug 25, 2024