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NM_000059.4(BRCA2):c.3295del (p.Ser1099fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Pathogenic (3 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:
RCV000241408.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)]

NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)
Other names:
3522delT
HGVS:
  • NC_000013.11:g.32337650del
  • NG_012772.3:g.27171del
  • NM_000059.4:c.3295delMANE SELECT
  • NM_000059.4:c.3295delT
  • NP_000050.3:p.Ser1099fs
  • LRG_293:g.27171del
  • NC_000013.10:g.32911787del
  • NM_000059.3:c.3294delT
  • NM_000059.3:c.3295delT
  • U43746.1:n.3522delT
Protein change:
S1099fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 3522&base_change=del T; dbSNP: rs80359383
NCBI 1000 Genomes Browser:
rs80359383
Molecular consequence:
  • NM_000059.4:c.3295del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000146208Breast Cancer Information Core (BIC) (BRCA2)
no assertion criteria provided
Pathogenic
(Dec 30, 1999)
germlineclinical testing

SCV000300616Evidence-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,

SCV000489680Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Pathogenic
(Nov 14, 2016)
unknownclinical testing

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

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Caucasiangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA.

Gynecol Oncol. 2011 May 1;121(2):353-7. doi: 10.1016/j.ygyno.2011.01.020. Epub 2011 Feb 15.

PubMed [citation]
PMID:
21324516

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300616.2

#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

From Counsyl, SCV000489680.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024