ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.290_293delACAA (p.Asn97Metfs) (rs763009188)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167103 SCV000217933 pathogenic Hereditary cancer-predisposing syndrome 2016-05-06 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)
Counsyl RCV000410961 SCV000489971 likely pathogenic Fanconi anemia, complementation group J 2016-09-02 criteria provided, single submitter clinical testing
Counsyl RCV000412074 SCV000489972 likely pathogenic Neoplasm of ovary 2016-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000480199 SCV000568029 pathogenic not provided 2018-11-07 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRIP1 is denoted c.290_293delACAA at the cDNA level and p.Asn97MetfsX3 (N97MfsX3) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAA[delACAA]TGAC. The deletion causes a frameshift, which changes an Asparagine to a Methionine at codon 97, and creates a premature stop codon at position 3 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV000197800 SCV000253960 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-04 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 4 of the BRIP1 mRNA (c.290_293delACAA), causing a frameshift at codon 97. This creates a premature translational stop signal (p.Asn97Metfs*3) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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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