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NM_000059.3(BRCA2):c.8012_8034del (p.Ala2671fs) AND Breast-ovarian cancer, familial 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 8, 2016
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:
RCV000241352.2

Allele description

NM_000059.3(BRCA2):c.8012_8034del (p.Ala2671fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.8012_8034del (p.Ala2671fs)
Other names:
8238del23
HGVS:
  • NC_000013.11:g.32363214_32363236del
  • NG_012772.3:g.52735_52757del
  • NM_000059.3:c.8012_8034del
  • NP_000050.2:p.Ala2671fs
  • LRG_293t1:c.8012_8034del
  • LRG_293:g.52735_52757del
  • LRG_293p1:p.Ala2671fs
  • NC_000013.10:g.32937351_32937373del
  • NM_000059.3:c.8012_8034delCTATAAAAAAGATAATGGAAAGG
  • U43746.1:n.8238_8260del23
Protein change:
A2671fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8238&base_change=del 23; dbSNP: rs80359690
NCBI 1000 Genomes Browser:
rs80359690
Molecular consequence:
  • NM_000059.3:c.8012_8034del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast 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
SCV000147249Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenic
(Dec 30, 1999) 		germlineclinical testing

SCV000301234Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Sep 8, 2016) 		germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147249.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000301234.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

Last Updated: Apr 2, 2021