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NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) AND Hypertrophic cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000230399.2

Allele description

NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter)

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.1210C>T (p.Gln404Ter)
HGVS:
  • NC_000011.10:g.47343505G>A
  • NG_007667.1:g.14198C>T
  • NM_000256.3:c.1210C>T
  • NP_000247.2:p.Gln404Ter
  • LRG_386t1:c.1210C>T
  • LRG_386:g.14198C>T
  • LRG_386p1:p.Gln404Ter
  • NC_000011.9:g.47365056G>A
  • p.Gln404X
Protein change:
Q404*
Links:
dbSNP: rs727504329
NCBI 1000 Genomes Browser:
rs727504329
Molecular consequence:
  • NM_000256.3:c.1210C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Identifiers:
MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000284204Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 5, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000284204.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal at codon 404 (p.Gln404*) of the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547), and this particular variant has been reported in the literature in a patient with dilated cardiomyopathy (PMID: 19996403) and in an individual affected with hypertrophic cardiomyopathy (Invitae database). ClinVar contains an entry for this variant (Variation ID: 177796). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jul 21, 2018