NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) AND Primary familial hypertrophic cardiomyopathy

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

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030282.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)]

Gene:
MYBPC3:myosin binding protein C, cardiac [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
HGVS:
  • NC_000011.10:g.47338520C>T
  • NG_007667.1:g.19183G>A
  • NM_000256.3:c.2308G>A
  • NP_000247.2:p.Asp770Asn
  • LRG_386t1:c.2308G>A
  • LRG_386:g.19183G>A
  • LRG_386p1:p.Asp770Asn
  • NC_000011.9:g.47360071C>T
  • c.2308G>A
  • p.D770N:GAC>AAC
Protein change:
D770N
Links:
dbSNP: 36211723
NCBI 1000 Genomes Browser:
rs36211723
Molecular consequence:
  • NM_000256.3:c.2308G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hypertrophic cardiomyopathy; CMH; Cardiomyopathy, hypertrophic; See all synonyms [MedGen]
Identifiers:
MedGen: C0949658; Orphanet: 155; Orphanet: 217569; Orphanet: 99739

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000052949LabCorpclassified by single submitterlikely pathogenic
(Aug 18, 2011)
germlineliterature only, clinical testingmissense mutation

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10.

PubMed [citation]
PMID:
15519027

MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.

Tanjore RR, Rangaraju A, Kerkar PG, Calambur N, Nallari P.

Can J Cardiol. 2008 Feb;24(2):127-30.

PubMed [citation]
PMID:
18273486
PMCID:
PMC2644567
See all PubMed Citations (4)

Details of each submission

From LabCorp, SCV000052949.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (4)
2not provided1not providednot providedclinical testing PubMed (4)
3not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteMYBPC3:c.786C>T, MYBPC3:c.706A>G, MYBPC3:c.506-12delC, MYBPC3:c.3288G>A, MYL2:c.353+20delG, MYL2:c.353+46dupC, TNNI3:c.25-8T>A, TNNI3:c.373-10T>G, TNNT2:c.207G>A, TNNT2:c.53-11_53-7delCTTCT, TNNT2:c.318C>T1
3SingleHeterozygote1

Last Updated: Feb 24, 2015

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