NM_000256.3(MYBPC3):c.1351+1G>A AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: May 4, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208143.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1351+1G>A]

NM_000256.3(MYBPC3):c.1351+1G>A

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.1351+1G>A
HGVS:
  • NC_000011.10:g.47343020C>T
  • NG_007667.1:g.14683G>A
  • NM_000256.3:c.1351+1G>AMANE SELECT
  • LRG_386t1:c.1351+1G>A
  • LRG_386:g.14683G>A
  • NC_000011.9:g.47364571C>T
Links:
dbSNP: rs727503204
NCBI 1000 Genomes Browser:
rs727503204
Molecular consequence:
  • NM_000256.3:c.1351+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
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
SCV000264052Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(May 4, 2015)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

Ho CY, Carlsen C, Thune JJ, Havndrup O, Bundgaard H, Farrohi F, Rivero J, Cirino AL, Andersen PS, Christiansen M, Maron BJ, Orav EJ, Køber L.

Circ Cardiovasc Genet. 2009 Aug;2(4):314-21. doi: 10.1161/CIRCGENETICS.109.862128. Epub 2009 Jun 19.

PubMed [citation]
PMID:
20031602
PMCID:
PMC2773504

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

Waldmüller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, Timmermann B, Haremza J, Perrot A, Scheer S, Wachter R, Schulze-Waltrup N, Dermintzoglou A, Schönberger J, Zeh W, Jurmann B, Brodherr T, Börgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, et al.

Eur J Heart Fail. 2011 Nov;13(11):1185-92. doi: 10.1093/eurjhf/hfr074. Epub 2011 Jul 12.

PubMed [citation]
PMID:
21750094

Details of each submission

From Blueprint Genetics, SCV000264052.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 25, 2021

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