NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) AND Familial hypertrophic cardiomyopathy 4

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2005)

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:
RCV000023054.4

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)]

NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)

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.2618C>A (p.Pro873His)
HGVS:
  • NC_000011.10:g.47335996G>T
  • NG_007667.1:g.21707C>A
  • NM_000256.3:c.2618C>A
  • NP_000247.2:p.Pro873His
  • LRG_386t1:c.2618C>A
  • LRG_386:g.21707C>A
  • LRG_386p1:p.Pro873His
  • NC_000011.9:g.47357547G>T
  • Q14896:p.Pro873His
  • c.2618C>A
Protein change:
P873H; PRO873HIS
Links:
UniProtKB: Q14896#VAR_029420; OMIM: 600958.0022; dbSNP: 371401403
GMAF:
0.0002(A), 371401403
NCBI 1000 Genomes Browser:
rs371401403
Allele Frequency:
0.0001, GO-ESP
Molecular consequence:
  • NM_000256.3:c.2618C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 4 (CMH4)
Identifiers:
MedGen: C1861862; OMIM: 115197

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044345OMIMno assertion criteria providedPathogenic
(Oct 1, 2005)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C.

J Med Genet. 2005 Oct;42(10):e59.

PubMed [citation]
PMID:
16199542
PMCID:
PMC1735926

Details of each submission

From OMIM, SCV000044345.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the pro873-to-his (P873H) mutation in the MYBPC3 gene that was found in compound heterozygous state in a patient with familial hypertrophic cardiomyopathy (CMH4; 115197) by Ingles et al. (2005), see 600958.0021.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017