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:
current
Accession:
RCV000481797.1

Allele description

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

Gene:
MYBPC3:myosin binding protein C, cardiac [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042Lysfs)
Other names:
p.Thr1042LysfsX5
HGVS:
  • 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
Links:
dbSNP: rs1064793202
NCBI 1000 Genomes Browser:
rs1064793202
Molecular consequence:
  • NM_000256.3:c.3124_3125insAA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000565279GeneDxcriteria provided, single submitter
Pathogenic
(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

Description

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).

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

Last Updated: Mar 30, 2019

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