NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) AND Primary dilated cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Jan 31, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035600.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)]

NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)

Gene:
MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)
HGVS:
  • NC_000011.10:g.47332594A>G
  • NG_007667.1:g.25109T>C
  • NM_000256.3:c.3599T>C
  • NP_000247.2:p.Leu1200Pro
  • LRG_386t1:c.3599T>C
  • LRG_386:g.25109T>C
  • LRG_386p1:p.Leu1200Pro
  • NC_000011.9:g.47354145A>G
  • c.3599T>C
Protein change:
L1200P
Links:
dbSNP: 397516028
NCBI 1000 Genomes Browser:
rs397516028
Molecular consequence:
  • NM_000256.3:c.3599T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Cardiomyopathy, congestive
Identifiers:
MedGen: C0007193

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000059251Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Jan 31, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000059251.4

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

Last Updated: Apr 8, 2017