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NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 3, 2021
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:
RCV002445716.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs)]

NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091fs)
HGVS:
  • NC_000011.10:g.47333244_47333251delinsGTGTACCCCCAGAGT
  • NG_007667.1:g.24452_24459delinsACTCTGGGGGTACAC
  • NM_000256.3:c.3273_3280delinsACTCTGGGGGTACACMANE SELECT
  • NP_000247.2:p.Asp1091fs
  • LRG_386t1:c.3273_3280delinsACTCTGGGGGTACAC
  • LRG_386:g.24452_24459delinsACTCTGGGGGTACAC
  • LRG_386p1:p.Asp1091fs
  • NC_000011.9:g.47354795_47354802delinsGTGTACCCCCAGAGT
  • NM_000256.3:c.3273_3280delTGTCGGCAinsACTCTGGGGGTACACMANE SELECT
Protein change:
D1091fs
Molecular consequence:
  • NM_000256.3:c.3273_3280delinsACTCTGGGGGTACAC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002611926Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Feb 3, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002611926.2

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

Description

The c.3273_3280delTGTCGGCAins15 pathogenic mutation, located in coding exon 30 of the MYBPC3 gene, results from the deletion of 8 nucleotides and insertion of 15 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.D1091Efs*60). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024