NM_000257.4(MYH7):c.789A>G (p.Ile263Met) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Nov 6, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208372.1

Allele description [Variation Report for NM_000257.4(MYH7):c.789A>G (p.Ile263Met)]

NM_000257.4(MYH7):c.789A>G (p.Ile263Met)

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.789A>G (p.Ile263Met)
HGVS:
  • NC_000014.9:g.23431425T>C
  • NG_007884.1:g.9237A>G
  • NM_000257.4:c.789A>GMANE SELECT
  • NP_000248.2:p.Ile263Met
  • LRG_384t1:c.789A>G
  • LRG_384:g.9237A>G
  • NC_000014.8:g.23900634T>C
  • NM_000257.2:c.789A>G
  • NM_000257.3:c.789A>G
  • P12883:p.Ile263Met
Protein change:
I263M
Links:
UniProtKB: P12883#VAR_042772; dbSNP: rs730880855
NCBI 1000 Genomes Browser:
rs730880855
Molecular consequence:
  • NM_000257.4:c.789A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000264076Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 6, 2015)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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

Details of each submission

From Blueprint Genetics, SCV000264076.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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