ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.71_96del (p.Asp23_Leu24insTer) (rs80359637)

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Total submissions: 4
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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) RCV000113090 SCV000300293 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000113090 SCV000220915 likely pathogenic Breast-ovarian cancer, familial 2 2014-11-26 criteria provided, single submitter literature only
Ambry Genetics RCV000509918 SCV000608182 pathogenic Hereditary cancer-predisposing syndrome 2016-07-09 criteria provided, single submitter clinical testing The c.71_96del26 pathogenic mutation, located in coding exon 2 of the BRCA2 gene, results from a deletion of 26 nucleotides at nucleotide positions 71 to 96, causing a translational frameshift with a predicted alternate stop codon (p.L24*)​. 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113090 SCV000146106 pathogenic Breast-ovarian cancer, familial 2 1999-12-30 no assertion criteria provided clinical testing

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