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NM_000059.3(BRCA2):c.1310_1313delAAGA (p.Lys437Ilefs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 3, 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:
RCV000131062.5

Allele description

NM_000059.3(BRCA2):c.1310_1313delAAGA (p.Lys437Ilefs)

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.1310_1313delAAGA (p.Lys437Ilefs)
Other names:
1529del4; 1537del4; 1537_1540delAAAG
HGVS:
  • NC_000013.11:g.32332788_32332791delAAGA
  • NG_012772.3:g.22309_22312delAAGA
  • NM_000059.3:c.1310_1313delAAGA
  • NP_000050.2:p.Lys437Ilefs
  • LRG_293t1:c.1310_1313delAAGA
  • LRG_293:g.22309_22312delAAGA
  • LRG_293p1:p.Lys437_Asp438delinsIlefs
  • NC_000013.10:g.32906925_32906928delAAGA
  • NG_012772.3:g.22300_22303delAAAG
  • NG_012772.3:g.22308_22311delAAAG
  • NM_000059.3:c.1301_1304delAAAG
  • NM_000059.3:c.1309_1312delAAAG
  • NM_000059.3:c.1310_1313del
  • U43746.1:n.1529_1532delAAAG
  • U43746.1:n.1537_1540delAAAG
  • U43746.1:n.1538_1541delAAGA
  • p.K437Ifs*22
  • p.K438IfsX22
  • p.Lys437Ilefs*22
Nucleotide change:
1538del4
Links:
Breast Cancer Information Core (BIC) (BRCA2): 1529&base_change=del AAAG; Breast Cancer Information Core (BIC) (BRCA2): 1537&base_change=del AAAG; Breast Cancer Information Core (BIC) (BRCA2): 1538&base_change=del AAGA; dbSNP: rs80359277
NCBI 1000 Genomes Browser:
rs80359277
Allele Frequency:
0.00001(-)
Molecular consequence:
  • NM_000059.3:c.1310_1313delAAGA - 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
SCV000185992Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))
Pathogenic
(Jan 19, 2017)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link,

SCV000688704Color
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(May 3, 2017)
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

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 (11)

Details of each submission

From Ambry Genetics, SCV000185992.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (10)

Description

Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation

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

From Color, SCV000688704.1

#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 10, 2018