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NM_000059.3(BRCA2):c.6275_6276delTT (p.Leu2092Profs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 18, 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:
RCV000131029.5

Allele description

NM_000059.3(BRCA2):c.6275_6276delTT (p.Leu2092Profs)

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.6275_6276delTT (p.Leu2092Profs)
Other names:
6503_6504delTT
HGVS:
  • NC_000013.11:g.32340630_32340631delTT
  • NG_012772.3:g.30151_30152delTT
  • NM_000059.3:c.6275_6276delTT
  • NP_000050.2:p.Leu2092Profs
  • LRG_293t1:c.6275_6276delTT
  • LRG_293:g.30151_30152delTT
  • LRG_293p1:p.Leu2092Profs
  • NC_000013.10:g.32914767_32914768delTT
  • NM_000059.3:c.6275_6276del
  • U43746.1:n.6503_6504delTT
  • p.L2092Pfs*7
  • p.L2092PfsX7
  • p.Leu2092Profs*7
Nucleotide change:
6503delTT
Links:
Breast Cancer Information Core (BIC) (BRCA2): 6503&base_change=del TT; OMIM: 600185.0002; dbSNP: rs11571658
NCBI 1000 Genomes Browser:
rs11571658
Allele Frequency:
0.00002(-)
Molecular consequence:
  • NM_000059.3:c.6275_6276delTT - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000185959Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))
Pathogenic
(Apr 18, 2017)
germlineclinical testing

PubMed (13)
[See all records that cite these PMIDs]

Citation Link,

SCV000292149Color
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Apr 6, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Identification of the breast cancer susceptibility gene BRCA2.

Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G.

Nature. 1995 Dec 21-28;378(6559):789-92. Erratum in: Nature 1996 Feb 22;379(6567):749.

PubMed [citation]
PMID:
8524414

Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.

Edwards SM, Evans DG, Hope Q, Norman AR, Barbachano Y, Bullock S, Kote-Jarai Z, Meitz J, Falconer A, Osin P, Fisher C, Guy M, Jhavar SG, Hall AL, O'Brien LT, Gehr-Swain BN, Wilkinson RA, Forrest MS, Dearnaley DP, Ardern-Jones AT, Page EC, Easton DF, et al.

Br J Cancer. 2010 Sep 7;103(6):918-24. doi: 10.1038/sj.bjc.6605822. Epub 2010 Aug 24.

PubMed [citation]
PMID:
20736950
PMCID:
PMC2948551
See all PubMed Citations (14)

Details of each submission

From Ambry Genetics, SCV000185959.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (13)

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color, SCV000292149.1

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

Last Updated: Oct 13, 2018