NM_000257.4(MYH7):c.505A>G (p.Arg169Gly) AND Hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Feb 3, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000154253.2

Allele description [Variation Report for NM_000257.4(MYH7):c.505A>G (p.Arg169Gly)]

NM_000257.4(MYH7):c.505A>G (p.Arg169Gly)

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.505A>G (p.Arg169Gly)
HGVS:
  • NC_000014.9:g.23432504T>C
  • NG_007884.1:g.8158A>G
  • NM_000257.4:c.505A>GMANE SELECT
  • NP_000248.2:p.Arg169Gly
  • LRG_384t1:c.505A>G
  • LRG_384:g.8158A>G
  • NC_000014.8:g.23901713T>C
  • NM_000257.2:c.505A>G
Protein change:
R169G
Links:
dbSNP: rs727504267
NCBI 1000 Genomes Browser:
rs727504267
Molecular consequence:
  • NM_000257.4:c.505A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypertrophic cardiomyopathy
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000203908Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedLikely pathogenic
(Feb 3, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided101not providednot providednot providedclinical testing

Citations

PubMed

Implications of hypertrophic cardiomyopathy transmitted by sperm donation.

Maron BJ, Lesser JR, Schiller NB, Harris KM, Brown C, Rehm HL.

JAMA. 2009 Oct 21;302(15):1681-4. doi: 10.1001/jama.2009.1507. Erratum in: JAMA. 2009 Nov 11;302(18):1972.

PubMed [citation]
PMID:
19843903

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000203908.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testing PubMed (1)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided10not provided1not provided

Last Updated: Nov 27, 2021

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