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NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2013
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:
RCV000158336.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter)]

NM_000256.3(MYBPC3):c.1201C>T (p.Gln401Ter)

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.1201C>T (p.Gln401Ter)
Other names:
p.Q401*:CAG>TAG
HGVS:
  • NC_000011.10:g.47343514G>A
  • NG_007667.1:g.14189C>T
  • NM_000256.3:c.1201C>TMANE SELECT
  • NP_000247.2:p.Gln401Ter
  • LRG_386t1:c.1201C>T
  • LRG_386:g.14189C>T
  • LRG_386p1:p.Gln401Ter
  • NC_000011.9:g.47365065G>A
Protein change:
Q401*
Links:
dbSNP: rs730880637
NCBI 1000 Genomes Browser:
rs730880637
Molecular consequence:
  • NM_000256.3:c.1201C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208271GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 14, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208271.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Gln401Stop (CAG>TAG): c.1201 C>T in exon 13 of the MYBPC3 gene (NM_000256.3)The Gln401Stop mutation in the MYBPC3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Gln401Stop is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the MYBPC3 gene have been reported in association with HCM. In summary, Gln401Stop in the MYBPC3 gene is interpreted as a disease-causing mutation. Mutations in the MYBPC3 gene have been reported in 20%-30% of patients with autosomal dominant familial hypertrophic cardiomyopathy, and have been reported less frequently in patients with autosomal dominant familial dilated cardiomyopathy (Cirino A et al., 2011; Hershberger R et al., 2009). The variant is found in HCM panel(s).

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

Last Updated: Nov 5, 2022