NM_000059.3(BRCA2):c.631+2T>A AND not provided

Clinical significance:Pathogenic (Last evaluated: May 29, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000486311.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.631+2T>A]

NM_000059.3(BRCA2):c.631+2T>A

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.631+2T>A
HGVS:
  • NC_000013.11:g.32326615T>A
  • NG_012772.3:g.16136T>A
  • NM_000059.3:c.631+2T>A
  • LRG_293t1:c.631+2T>A
  • LRG_293:g.16136T>A
  • NC_000013.10:g.32900752T>A
Links:
dbSNP: rs81002899
NCBI 1000 Genomes Browser:
rs81002899
Molecular consequence:
  • NM_000059.3:c.631+2T>A - 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
SCV000569285GeneDxcriteria provided, single submitter
Pathogenic
(May 29, 2018)
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, SCV000569285.4

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

Description

This variant is denoted BRCA2 c.631+2T>A or IVS7+2T>A and consists of a T>A nucleotide substitution at the +2 position of intron 7 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 859+2T>A. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. While BRCA2 c.631+2T>A has not, to our knowledge, been reported in the literature, another variant at the same position, BRCA2 c.631+2T>G, has been observed in individuals with hereditary breast and/or ovarian cancer syndrome, with functional studies revealing impacts on splicing and protein expression (Pyne 2000, Biswas 2011, Wong-Brown 2015). Based on the current evidence, we consider BRCA2 c.631+2T>A to be pathogenic.

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

Last Updated: Apr 1, 2021

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