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NM_000059.4(BRCA2):c.276dup (p.Ser93fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 25, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001016544.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.276dup (p.Ser93fs)]

NM_000059.4(BRCA2):c.276dup (p.Ser93fs)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.276dup (p.Ser93fs)
Other names:
504insA
HGVS:
  • NC_000013.11:g.32319285dup
  • NG_012772.3:g.8806dup
  • NG_017006.2:g.1080dup
  • NM_000059.4:c.276dupMANE SELECT
  • NM_000059.4:c.276dupA
  • NP_000050.3:p.Ser93fs
  • LRG_293t1:c.276dup
  • LRG_293:g.8806dup
  • NC_000013.10:g.32893420_32893421insA
  • NC_000013.10:g.32893422dup
  • NM_000059.3:c.276dup
  • NM_000059.3:c.276dupA
  • U43746.1:n.504_505insA
Protein change:
S93fs
Links:
Breast Cancer Information Core (BIC) (BRCA2): 504&base_change=ins A; dbSNP: rs80359345
NCBI 1000 Genomes Browser:
rs80359345
Molecular consequence:
  • NM_000059.4:c.276dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001177508Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 25, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group., Haffty BG.

Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.

PubMed [citation]
PMID:
22798144

Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

Sun J, Meng H, Yao L, Lv M, Bai J, Zhang J, Wang L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.

Clin Cancer Res. 2017 Oct 15;23(20):6113-6119. doi: 10.1158/1078-0432.CCR-16-3227. Epub 2017 Jul 19.

PubMed [citation]
PMID:
28724667
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001177508.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.276dupA pathogenic mutation, located in coding exon 2 of the BRCA2 gene, results from a duplication of A at nucleotide position 276, causing a translational frameshift with a predicted alternate stop codon (p.S93Ifs*8). This alteration has been identified in cohorts of Korean and Chinese breast cancer patients (Kim H et al. Breast Cancer Res. Treat. 2012 Aug;134:1315-26; Sun J et al. Clin. Cancer Res. 2017 Oct;23:6113-6119), as well as in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620). Of note, this alteration is also designated as c.275dupA and 504dupA in the published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 10, 2024