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NM_000059.4(BRCA2):c.8754+249G>A AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 12, 2015
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000191786.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.8754+249G>A]

NM_000059.4(BRCA2):c.8754+249G>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.8754+249G>A
Other names:
IVS 21+249G>A
HGVS:
  • NC_000013.11:g.32377040G>A
  • NG_012772.3:g.66561G>A
  • NM_000059.4:c.8754+249G>AMANE SELECT
  • LRG_293t1:c.8754+249G>A
  • LRG_293:g.66561G>A
  • NC_000013.10:g.32951177G>A
  • NM_000059.3:c.8754+249G>A
Links:
dbSNP: rs11571760
NCBI 1000 Genomes Browser:
rs11571760
Molecular consequence:
  • NM_000059.4:c.8754+249G>A - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000245207Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Benign
(Jan 12, 2015) 		germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000245207.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01583 (European), derived from 1000 genomes (2012-04-30).

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

Last Updated: Sep 29, 2024