ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.477_481delAAGAA (rs1555616143)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533378 SCV000633516 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys159Asnfs*11) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 25186627). ClinVar contains an entry for this variant (Variation ID: 461047). Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000561024 SCV000668953 pathogenic Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000662737 SCV000785510 likely pathogenic Fanconi anemia, complementation group J; Neoplasm of ovary 2017-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759711 SCV000889217 pathogenic not provided 2018-07-17 criteria provided, single submitter clinical testing

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