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NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) AND Hypertrophic cardiomyopathy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1993
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000015155.26

Allele description [Variation Report for NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)]

NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)

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.767G>A (p.Gly256Glu)
Other names:
p.G256E:GGA>GAA
HGVS:
  • NC_000014.9:g.23431447C>T
  • NG_007884.1:g.9215G>A
  • NM_000257.4:c.767G>AMANE SELECT
  • NP_000248.2:p.Gly256Glu
  • LRG_384t1:c.767G>A
  • LRG_384:g.9215G>A
  • NC_000014.8:g.23900656C>T
  • NM_000257.2:c.767G>A
  • NM_000257.3:c.767G>A
  • P12883:p.Gly256Glu
  • c.767G>A
Protein change:
G256E; GLY256GLU
Links:
UniProtKB: P12883#VAR_004570; OMIM: 160760.0012; dbSNP: rs121913633
NCBI 1000 Genomes Browser:
rs121913633
Molecular consequence:
  • NM_000257.4:c.767G>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
SCV000035412OMIM
no assertion criteria provided
Pathogenic
(May 1, 1993) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND.

Proc Natl Acad Sci U S A. 1993 May 1;90(9):3993-7.

PubMed [citation]
PMID:
8483915
PMCID:
PMC46432

Details of each submission

From OMIM, SCV000035412.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 1 patient with the G256E mutation and familial hypertrophic cardiomyopathy (CMH1; 192600), Fananapazir et al. (1993) found histologic changes on soleus muscle biopsy consistent with central core disease.

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

Last Updated: Sep 29, 2024