ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4563_4564del (p.Leu1522fs) (rs483353115)

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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) RCV000113322 SCV000300767 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113322 SCV000327055 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509863 SCV000607941 pathogenic Hereditary cancer-predisposing syndrome 2016-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000797388 SCV000936942 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1522Glyfs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs778693075, ExAC 0.002%). This variant has been observed in several individuals affected with breast and ovarian cancers (PMID: 28724667, 28831036, 19353265). This variant is also known as c.4563_4564delGT, c.4562_4563del, and p.L1521fs in the literature. ClinVar contains an entry for this variant (Variation ID: 126049). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113322 SCV000146450 pathogenic Breast-ovarian cancer, familial 2 2013-02-20 no assertion criteria provided clinical testing

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