ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9069_9076del (p.Asn3024fs)

dbSNP: rs80359746
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114040 SCV000301346 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000222600 SCV000277479 pathogenic Hereditary cancer-predisposing syndrome 2015-08-05 criteria provided, single submitter clinical testing The c.9069_9076delTAACATAC pathogenic mutation (also known as 9297del8), located in coding exon 22 of the BRCA2 gene, results from a deletion of 8 nucleotides between positions 9069 and 9076, causing a translational frameshift with a predicted alternate stop codon. This mutation (referred to as 9297del8) was seen once in a cohort of 107 families from Scotland and Northern Ireland suspected to have BRCA1/2 mutations (Br. J. Cancer 2003 Apr; 88(8):1256-62). In addition to the clinical data presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000114040 SCV000328040 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114040 SCV000147527 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496562 SCV000587985 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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