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NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 2019
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:
RCV001576301.3

Allele description [Variation Report for NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)]

NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.1103_1107dup (p.Glu370fs)
HGVS:
  • NC_000011.10:g.47343608_47343612dup
  • NG_007667.1:g.14091_14095dup
  • NM_000256.3:c.1103_1107dupMANE SELECT
  • NP_000247.2:p.Glu370fs
  • LRG_386t1:c.1103_1107dup
  • LRG_386:g.14091_14095dup
  • LRG_386p1:p.Glu370fs
  • NC_000011.9:g.47365159_47365163dup
  • NM_000256.3:c.1103_1107dupAGCTGMANE SELECT
Protein change:
E370fs
Links:
dbSNP: rs1555122462
NCBI 1000 Genomes Browser:
rs1555122462
Molecular consequence:
  • NM_000256.3:c.1103_1107dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001803459GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jul 16, 2019) 		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, SCV001803459.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as pathogenic but additional evidence is not available (ClinVar Variant ID# 520308; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Frameshift 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

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

Last Updated: May 1, 2024