U.S. flag

An official website of the United States government

NM_000257.4(MYH7):c.2783A>G (p.Asp928Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 6, 2017
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:
RCV002441332.2

Allele description [Variation Report for NM_000257.4(MYH7):c.2783A>G (p.Asp928Gly)]

NM_000257.4(MYH7):c.2783A>G (p.Asp928Gly)

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.2783A>G (p.Asp928Gly)
HGVS:
  • NC_000014.9:g.23424046T>C
  • NG_007884.1:g.16616A>G
  • NM_000257.4:c.2783A>GMANE SELECT
  • NM_001407004.1:c.2783A>G
  • NP_000248.2:p.Asp928Gly
  • NP_000248.2:p.Asp928Gly
  • NP_001393933.1:p.Asp928Gly
  • LRG_384t1:c.2783A>G
  • LRG_384:g.16616A>G
  • LRG_384p1:p.Asp928Gly
  • NC_000014.8:g.23893255T>C
  • NM_000257.2:c.2783A>G
Protein change:
D928G
Molecular consequence:
  • NM_000257.4:c.2783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407004.1:c.2783A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On
  • LOC108857666 [Raphanus sativus]
    LOC108857666 [Raphanus sativus]
    Gene ID:108857666
    Gene
  • Astigmatism
    Astigmatism
    Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in REFRACTIVE ERROR.<br/>
    MeSH

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
SCV002748254Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 6, 2017) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V.

Clin Genet. 2003 Oct;64(4):339-49.

PubMed [citation]
PMID:
12974739

Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.

Michels M, Soliman OI, Phefferkorn J, Hoedemaekers YM, Kofflard MJ, Dooijes D, Majoor-Krakauer D, Ten Cate FJ.

Eur Heart J. 2009 Nov;30(21):2593-8. doi: 10.1093/eurheartj/ehp306. Epub 2009 Aug 6.

PubMed [citation]
PMID:
19666645
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002748254.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.D928G variant (also known as c.2783A>G), located in coding exon 21 of the MYH7 gene, results from an A to G substitution at nucleotide position 2783. The aspartic acid at codon 928 is replaced by glycine, an amino acid with similar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort; however, clinical details were limited (Lopes LR et al. Heart, 2015 Feb;101:294-301). Other alterations affecting this amino acid (p.D928A, p.D928N, and p.D928V) have been reported in individuals with HCM (Erdmann J et al. Clin Genet. 2003 Oct;64(4):339-49; Michels M. Eur. Heart J. 2009 Nov;30(21):2593-8; 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: May 1, 2024