NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Jun 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000627129.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)]

NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu)

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.2429G>T (p.Arg810Leu)
Other names:
p.R810L:CGC>CTC
HGVS:
  • NC_000011.10:g.47337564C>A
  • NG_007667.1:g.20139G>T
  • NM_000256.3:c.2429G>TMANE SELECT
  • NP_000247.2:p.Arg810Leu
  • LRG_386t1:c.2429G>T
  • LRG_386:g.20139G>T
  • LRG_386p1:p.Arg810Leu
  • NC_000011.9:g.47359115C>A
Protein change:
R810L
Links:
dbSNP: rs375675796
NCBI 1000 Genomes Browser:
rs375675796
Molecular consequence:
  • NM_000256.3:c.2429G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000747941Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institutecriteria provided, single submitter
Likely pathogenic
(Jun 16, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute, SCV000747941.1

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

Last Updated: Oct 8, 2021

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