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NC_000011.10:g.47337730dup AND MYBPC3-related disorder

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 3, 2024
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:
RCV004549420.2

Allele description [Variation Report for NC_000011.10:g.47337730dup]

NC_000011.10:g.47337730dup

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NC_000011.10:g.47337730dup
Other names:
p.Trp792ValfsX41; p.Trp792Valfs*41
HGVS:
  • NC_000011.10:g.47337730dup
  • NG_007667.1:g.19973dup
  • NM_000256.3:c.2373dupMANE SELECT
  • NM_000256.3:c.2373dupG
  • NP_000247.2:p.Trp792fs
  • LRG_386t1:c.2373dup
  • LRG_386:g.19973dup
  • LRG_386p1:p.Trp792fs
  • NC_000011.10:g.47337729_47337730insC
  • NC_000011.9:g.47359281dup
  • NM_000256.3:c.2372_2373insGMANE SELECT
  • NM_000256.3:c.2373dupGMANE SELECT
  • c.2373_2374insG
  • p.W792VfsX41
Protein change:
W792fs
Links:
OMIM: 600958.0011; dbSNP: rs397515963
NCBI 1000 Genomes Browser:
rs397515963

Condition(s)

Name:
MYBPC3-related disorder
Synonyms:
MYBPC3-Related Disorders; MYBPC3-related condition; MYBPC3-related disease
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749627GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

SCV005356455PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jun 3, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749627.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 11-17-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

From PreventionGenetics, part of Exact Sciences, SCV005356455.1

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

Description

The MYBPC3 c.2373dupG variant is predicted to result in a frameshift and premature protein termination (p.Trp792Valfs*41). This variant has been reported in multiple unrelated individuals with hypertrophic cardiomyopathy (Niimura et al. 1998. PubMed ID: 9562578) and has been described as a founder variant in the Dutch population (Christiaans et al. 2010. PubMed ID: 20505798). This variant is reported in 0.0043% of alleles in individuals of European (Non-Finnish) descent in gnomAD and interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/42619/). Frameshift variants in MYBPC3 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 24, 2024