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NM_000059.4(BRCA2):c.631+2T>A AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jul 11, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000258303.3

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]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000327384Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)		Pathogenic
(Oct 2, 2015) 		germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV000785355Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely pathogenic
(Jul 11, 2017) 		unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing

Details of each submission

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327384.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided1not provided

From Counsyl, SCV000785355.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024