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NM_000257.4(MYH7):c.2783A>C (p.Asp928Ala) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2013
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:
RCV000155723.1

Allele description

NM_000257.4(MYH7):c.2783A>C (p.Asp928Ala)

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>C (p.Asp928Ala)
HGVS:
  • NC_000014.9:g.23424046T>G
  • NG_007884.1:g.16616A>C
  • NM_000257.4:c.2783A>CMANE SELECT
  • NP_000248.2:p.Asp928Ala
  • LRG_384t1:c.2783A>C
  • LRG_384:g.16616A>C
  • NC_000014.8:g.23893255T>G
  • NM_000257.2:c.2783A>C
Protein change:
D928A
Links:
dbSNP: rs727504558
NCBI 1000 Genomes Browser:
rs727504558
Molecular consequence:
  • NM_000257.4:c.2783A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000205433Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 3, 2013) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000205433.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The Asp928Ala variant in MYH7 has been reported in 1 individual with HCM as well as 3 asymptomatic relatives (Michels 2009) and was not identified in large popu lation studies (http://evs.gs.washington.edu/EVS/). Another variant at this pos ition (Asp928Asn) has been reported in individuals with HCM (Erdman 2003, Gimeno 2009, Perrot 2005), suggesting that a change at this position may not be tolera ted. Computational analyses (biochemical amino acid properties, conservation, A lignGVGD, PolyPhen2, and SIFT) suggest that the Asp928Ala variant may impact the protein, though this information is not predictive enough to determine pathogen icity. Additional information is needed to fully assess the clinical significan ce of the Asp928Ala variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Apr 8, 2022