NM_000257.4(MYH7):c.505A>G (p.Arg169Gly) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 9, 2015)

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:
RCV000223700.1

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000280358Stanford Center for Inherited Cardiovascular Disease, Stanford Universityno assertion criteria providedLikely pathogenic
(Feb 9, 2015)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280358.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease

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

Last Updated: Nov 27, 2021

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