ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) (rs775171520)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000449028 SCV000661582 pathogenic Hereditary cancer-predisposing syndrome 2017-01-31 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)
Color RCV000449028 SCV000537648 pathogenic Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586228 SCV000699662 likely pathogenic Hereditary breast and ovarian cancer syndrome 2015-11-27 criteria provided, single submitter clinical testing
Invitae RCV000198848 SCV000253958 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2017-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp448*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775171520, ExAC 0.05%). This variant has been reported in an individual with a personal or familial history of breast cancer (PMID: 26824983). ClinVar contains an entry for this variant (Variation ID: 216129). 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.

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