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NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 16, 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:
RCV002326232.2

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs)]

NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs)
HGVS:
  • NC_000011.10:g.47333222del
  • NG_007667.1:g.24481del
  • NM_000256.3:c.3302delMANE SELECT
  • NM_000256.3:c.3302delC
  • NP_000247.2:p.Thr1101fs
  • LRG_386t1:c.3302del
  • LRG_386:g.24481del
  • LRG_386p1:p.Thr1101fs
  • NC_000011.9:g.47354773del
Protein change:
T1101fs
Links:
dbSNP: rs730880670
NCBI 1000 Genomes Browser:
rs730880670
Molecular consequence:
  • NM_000256.3:c.3302del - 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
SCV002611249Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 16, 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, SCV002611249.2

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

Description

The c.3302delC pathogenic mutation, located in coding exon 30 of the MYBPC3 gene, results from a deletion of one nucleotide at nucleotide position 3302, causing a translational frameshift with a predicted alternate stop codon (p.T1101Kfs*88). 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