U.S. flag

An official website of the United States government

NM_000059.3(BRCA2):c.6275_6276delTT (p.Leu2092Profs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 27, 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:
RCV000160300.5

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]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000210777GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Oct 27, 2017)
germlineclinical testing

Citation Link,

SCV000296690Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest pathogenicity assessment criteria)
Pathogenic
(Apr 7, 2015)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O, Osorio A, Durán M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, Vega A, Campos B, Rodríguez-López R, Velasco E, Chaves J, Díaz-Rubio E, Jesús Cruz J, Torres M, Esteban E, Cervantes A, Alonso C, San Román JM, González-Sarmiento R, Miner C, Carracedo A, Eugenia Armengod M, et al.

Hum Mutat. 2003 Oct;22(4):301-12.

PubMed [citation]
PMID:
12955716

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
See all PubMed Citations (5)

Details of each submission

From GeneDx, SCV000210777.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This deletion of two nucleotides in BRCA2 is denoted c.6275_6276delTT at the cDNA level and p.Leu2092ProfsX7 (L2092PfsX7) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AGTC[delTT]CACT. The deletion causes a frameshift, which changes a Leucine to a Proline at codon 2092, and creates a premature stop codon at position 7 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.6275_6276delTT, previously reported as BRCA2 6503delTT, has been observed in numerous families with Hereditary Breast and Ovarian Cancer (Wooster 1995, Edwards 2010, Walsh 2011, Zhang 2011, Bayraktar 2012, Higgs 2015). We consider this variant to be pathogenic.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296690.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 9, 2018