NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: May 22, 2014)

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:
RCV000157306.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)]

NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser)
HGVS:
  • NC_000011.10:g.47346258C>T
  • NG_007667.1:g.11445G>A
  • NM_000256.3:c.1039G>AMANE SELECT
  • NP_000247.2:p.Gly347Ser
  • LRG_386t1:c.1039G>A
  • LRG_386:g.11445G>A
  • LRG_386p1:p.Gly347Ser
  • NC_000011.9:g.47367809C>T
  • c.1039G>A
Protein change:
G347S
Links:
dbSNP: rs397515884
NCBI 1000 Genomes Browser:
rs397515884
Molecular consequence:
  • NM_000256.3:c.1039G>A - 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
SCV000207038Blueprint Geneticsno assertion criteria providedLikely pathogenic
(May 22, 2014)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000207038.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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