NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala) AND Primary familial hypertrophic cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Jun 1, 2014)

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:
RCV000035674.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)]

NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)

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.836G>C (p.Gly279Ala)
HGVS:
  • NC_000011.10:g.47347666C>G
  • NG_007667.1:g.10037G>C
  • NM_000256.3:c.836G>C
  • NP_000247.2:p.Gly279Ala
  • LRG_386t1:c.836G>C
  • LRG_386:g.10037G>C
  • LRG_386p1:p.Gly279Ala
  • NC_000011.9:g.47369217C>G
  • Q14896:p.Gly279Ala
  • c.836G>C
Protein change:
G279A
Links:
UniProtKB: Q14896#VAR_019892; dbSNP: 375774648
NCBI 1000 Genomes Browser:
rs375774648
Allele Frequency:
0.0001, GO-ESP
Molecular consequence:
  • NM_000256.3:c.836G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hypertrophic cardiomyopathy
Identifiers:
MedGen: C0949658; OMIM: PS192600

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000190409CSER_CC_NCGL; University of Washington Medical Center - ESP 6500 variant annotationno assertion criteria providedUncertain significance
(Jun 1, 2014)
germlineresearch

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190409

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER_CC_NCGL; University of Washington Medical Center - ESP 6500 variant annotation, SCV000190409.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 27, 2017