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NM_000059.4(BRCA2):c.631+2T>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 29, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000486311.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.631+2T>A]

NM_000059.4(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_000059.4(BRCA2):c.631+2T>A
HGVS:
  • NC_000013.11:g.32326615T>A
  • NG_012772.3:g.16136T>A
  • NM_000059.4:c.631+2T>AMANE SELECT
  • NM_001406719.1:c.631+2T>A
  • NM_001406720.1:c.631+2T>A
  • NM_001406721.1:c.631+2T>A
  • NM_001406722.1:c.262+2T>A
  • LRG_293t1:c.631+2T>A
  • LRG_293:g.16136T>A
  • NC_000013.10:g.32900752T>A
  • NM_000059.3:c.631+2T>A
Links:
dbSNP: rs81002899
NCBI 1000 Genomes Browser:
rs81002899
Molecular consequence:
  • NM_000059.4:c.631+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406719.1:c.631+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406720.1:c.631+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406721.1:c.631+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406722.1:c.262+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569285GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 29, 2018) 		germlineclinical testing

Citation Link

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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: Sep 1, 2024