NM_000257.3(MYH7):c.3781A>C (p.Ser1261Arg) AND Cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030317.1

Allele description [Variation Report for NM_000257.3(MYH7):c.3781A>C (p.Ser1261Arg)]

NM_000257.3(MYH7):c.3781A>C (p.Ser1261Arg)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.3(MYH7):c.3781A>C (p.Ser1261Arg)
HGVS:
  • NC_000014.9:g.23419555T>G
  • NG_007884.1:g.21107A>C
  • NM_000257.3:c.3781A>C
  • NP_000248.2:p.Ser1261Arg
  • LRG_384t1:c.3781A>C
  • LRG_384:g.21107A>C
  • LRG_384p1:p.Ser1261Arg
  • NC_000014.8:g.23888764T>G
  • NM_000257.2:c.3781A>C
Protein change:
S1261R
Links:
dbSNP: 193922389
NCBI 1000 Genomes Browser:
rs193922389
Molecular consequence:
  • NM_000257.3:c.3781A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MedGen: C0878544

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052984LabCorpcriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Details of each submission

From LabCorp, SCV000052984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 5, 2017