U.S. flag

An official website of the United States government

NM_000059.4(BRCA2):c.631+2T>C AND Familial cancer of breast

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000577702.9

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

NM_000059.4(BRCA2):c.631+2T>C

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

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678794ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

High detection rate for BRCA2 mutations in male breast cancer families from North West England.

Evans DG, Bulman M, Young K, Gokhale D, Lalloo F.

Fam Cancer. 2001;1(3-4):131-3.

PubMed [citation]
PMID:
14574168

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000678794.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024