NM_004656.4(BAP1):c.783+2T>C AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 22, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000485691.3

Allele description [Variation Report for NM_004656.4(BAP1):c.783+2T>C]

NM_004656.4(BAP1):c.783+2T>C

Gene:
BAP1:BRCA1 associated protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.1
Genomic location:
Preferred name:
NM_004656.4(BAP1):c.783+2T>C
HGVS:
  • NC_000003.12:g.52406251A>G
  • NG_031859.1:g.8743T>C
  • NM_004656.4:c.783+2T>CMANE SELECT
  • LRG_529t1:c.783+2T>C
  • LRG_529:g.8743T>C
  • NC_000003.11:g.52440267A>G
  • NM_004656.2:c.783+2T>C
  • NM_004656.3:c.783+2T>C
Links:
dbSNP: rs774730309
NCBI 1000 Genomes Browser:
rs774730309
Molecular consequence:
  • NM_004656.4:c.783+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000572190GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 22, 2021)
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, SCV000572190.5

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

Description

Canonical splice site variant with an indeterminate effect on protein function, demonstrating no effect on splicing in one study, but the use of a cryptic splice acceptor site in another study (Goldberg 2021, SCV001189319.2); Not observed at a significant frequency in large population cohorts (Lek 2016); Observed in individuals with mesothelioma, breast, and other cancers (Betti 2018, Bernstein-Molho 2019, Goldberg 2021); This variant is associated with the following publications: (PMID: 29761599, 30338612, 30980208, 33600035)

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

Last Updated: Sep 24, 2021

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