ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1188_1189insTTAG (p.Gln397fs) (rs1555281767)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755864 SCV000883491 pathogenic not provided 2017-12-31 criteria provided, single submitter clinical testing The BRCA2 c.1189_1190insTTAG; p.Gln397fs variant (rs397515635), also known as 1417insTTAG and 1418insTTAG, is reported in the literature in individuals with breast or ovarian cancer (Lalloo 2006, Susswein 2016, Walsh 2011). It is reported as pathogenic multiple times in the ClinVar database (Variation ID: 51080), and is observed in the general population with a low overall allele frequency of 0.0004% (1/245998 alleles) in the Genome Aggregation Database. This variant inserts 4 nucleotides causing a frameshift and is predicted to result in a truncated protein or absent transcript. Based on the above information, this variant is considered pathogenic. REFERENCES Lalloo F et al. BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer. 2006 May;42(8):1143-50. Susswein LR et al. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med. 2016 Aug;18(8):823-32. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7.
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661722 SCV000784029 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.

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