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NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 31, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000157307.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)]

NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)

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.1786G>A (p.Gly596Arg)
Other names:
p.G596R:GGG>AGG
HGVS:
  • NC_000011.10:g.47341995C>T
  • NG_007667.1:g.15708G>A
  • NM_000256.3:c.1786G>AMANE SELECT
  • NP_000247.2:p.Gly596Arg
  • LRG_386t1:c.1786G>A
  • LRG_386:g.15708G>A
  • LRG_386p1:p.Gly596Arg
  • NC_000011.9:g.47363546C>T
  • c.1786G>A
Protein change:
G596R
Links:
dbSNP: rs199728019
NCBI 1000 Genomes Browser:
rs199728019
Molecular consequence:
  • NM_000256.3:c.1786G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
unknown functional consequence
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000207042Blueprint Genetics
no assertion criteria provided
Likely pathogenic
(Oct 31, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000207042.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024