NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042Lysfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description

NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042Lysfs)

MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042Lysfs)
Other names:
  • NC_000011.10:g.47333622_47333623insTT
  • NG_007667.1:g.24080_24081insAA
  • NM_000256.3:c.3124_3125insAA
  • NP_000247.2:p.Thr1042Lysfs
  • LRG_386t1:c.3124_3125insAA
  • LRG_386:g.24080_24081insAA
  • LRG_386p1:p.Thr1042Lysfs
  • NC_000011.9:g.47355173_47355174insTT
dbSNP: rs1064793202
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000256.3:c.3124_3125insAA - frameshift variant - [Sequence Ontology: SO:0001589]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000565279GeneDxcriteria provided, single submitter
(Jun 30, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000565279.3

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


The c.3124_3125insAA pathogenic variant in the MYBPC3 gene has been previously reported in association with HCM (Niimura et al., 1998; van Driest et al., 2004). This variant causes a shift in reading frame beginning with codon threonine 1042, changing it to a lysine, and creating a premature stop codon at position 5 of the new reading frame, denoted p.Thr1042LysfsX5. This variant is expected to result in an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift pathogenic variants in the MYBPC3 gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.3124_3125insAA variant has not been observed in large population cohorts (Lek et al., 2016; Exome Variant Server).

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

Last Updated: Mar 30, 2019

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