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NM_000257.4(MYH7):c.3170G>A (p.Gly1057Asp) AND Hypertrophic cardiomyopathy 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 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:
RCV000584763.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3170G>A (p.Gly1057Asp)]

NM_000257.4(MYH7):c.3170G>A (p.Gly1057Asp)

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.3170G>A (p.Gly1057Asp)
HGVS:
  • NC_000014.9:g.23422255C>T
  • NG_007884.1:g.18407G>A
  • NM_000257.4:c.3170G>AMANE SELECT
  • NP_000248.2:p.Gly1057Asp
  • LRG_384t1:c.3170G>A
  • LRG_384:g.18407G>A
  • NC_000014.8:g.23891464C>T
  • NM_000257.2:c.3170G>A
Protein change:
G1057D
Links:
dbSNP: rs1298412196
NCBI 1000 Genomes Browser:
rs1298412196
Molecular consequence:
  • NM_000257.4:c.3170G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692495Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
criteria provided, single submitter

(Agnes Ginges Centre for Molecular Cardiology criteria (2015))		Uncertain significance
(Mar 9, 2017) 		germlineresearch

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C.

J Med Genet. 2005 Oct;42(10):e59.

PubMed [citation]
PMID:
16199542
PMCID:
PMC1735926

Details of each submission

From Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, SCV000692495.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)

Description

The MYH7 Gly1057Asp is absent from both the 1000 genomes project (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). We identified this variant in 1 HCM proband (Ingles J, et al., 2005). The proband has no family history of HCM or SCD. Interestingly, a different rare missense variant at this amino acid position (Gly1057Ser) has also been reported in HCM individuals, suggesting that an amino acid substitution at this site may not be tolerated. Computational tools SIFT, MutationTaster PolyPhen-2 and, PolyPhen-HCM predict this variant to have a deleterious effect. Based on rarity in populations and our limited familial data we have classified MYH7 Gly1057Asp as a variant of "uncertain significance".

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

Last Updated: Dec 11, 2022