ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5604_5605del (p.Asp1868fs) (rs773229361)

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Total submissions: 3
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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) RCV000241372 SCV000300902 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000702521 SCV000831379 pathogenic Hereditary breast and ovarian cancer syndrome 2018-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1868Glufs*4) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773229361, ExAC 0.006%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 254560). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508054 SCV000600647 pathogenic not provided 2017-03-24 criteria provided, single submitter clinical testing

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