NM_000256.3(MYBPC3):c.3190+4C>T AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766370.1

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3190+4C>T]

NM_000256.3(MYBPC3):c.3190+4C>T

Gene:
MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_000256.3(MYBPC3):c.3190+4C>T
HGVS:
  • NC_000011.10:g.47333553G>A
  • NG_007667.1:g.24150C>T
  • NM_000256.3:c.3190+4C>TMANE SELECT
  • LRG_386t1:c.3190+4C>T
  • LRG_386:g.24150C>T
  • NC_000011.9:g.47355104G>A
Links:
dbSNP: rs571457875
NCBI 1000 Genomes Browser:
rs571457875
Molecular consequence:
  • NM_000256.3:c.3190+4C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000208156GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 23, 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, SCV000208156.10

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

Description

This varaint is denoted c.3190+4 C>T: IVS29+4 C>T in intron 29 of the MYBPC3 gene (NM_000256.3). The c.3190+4 C>T variant in the MYBPC3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Several in silico algorithms predict that this variant destroys the splice donor site in intron 29, resulting in abnormal gene splicing which may lead to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product if the message is used for protein translation. A nearby intronic mutation c.3190+5 G>A, has been reported in association with HCM (Rodriguez-Garcia M et al., 2010). Other splice site mutations in the MYBPC3 gene have been reported in association with HCM. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in HCM panel(s).

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

Last Updated: Jul 7, 2021

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