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NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 19, 2022
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:
RCV000158098.6

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)]

NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)

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.1522C>T (p.Gln508Ter)
Other names:
p.Q508*:CAG>TAG
HGVS:
  • NC_000011.10:g.47342680G>A
  • NG_007667.1:g.15023C>T
  • NM_000256.3:c.1522C>TMANE SELECT
  • NP_000247.2:p.Gln508Ter
  • LRG_386t1:c.1522C>T
  • LRG_386:g.15023C>T
  • LRG_386p1:p.Gln508Ter
  • NC_000011.9:g.47364231G>A
Protein change:
Q508*
Links:
dbSNP: rs730880544
NCBI 1000 Genomes Browser:
rs730880544
Molecular consequence:
  • NM_000256.3:c.1522C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208033GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 19, 2022) 		germlineclinical testing

Citation Link,

SCV000280216Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Likely pathogenic
(Dec 12, 2012) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000208033.13

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280216.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MYBPC3 p.Gln508Ter Given that this type of protein-truncating variant in MYBPC3 is a common mechanism for disease in HCM, (reviewed below) we consider this variant likely disease causing. The specific variant is novel and has not been seen in any other cases of HCM. Other nonsense variants have been reported in association with disease in this gene (Stenson P et al., 2009 and Pan et al 2012).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024