ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) (rs864622611)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204583 SCV000261327 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2019-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys705Thrfs*10) 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 endometrial cancer (PMID: 27443514). ClinVar contains an entry for this variant (Variation ID: 220629). 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.
GeneDx RCV000216913 SCV000279458 pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing This deletion of 5 nucleotides in BRIP1 is denoted c.2114_2118delAAGAA at the cDNA level and p.Lys705ThrfsX10 (K705TfsX10) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TTAA[delAAGAA]CGTT. The deletion causes a frameshift, which changes a Lysine to a Threonine at codon 705, and creates a premature stop codon at position 10 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.
Ambry Genetics RCV000569882 SCV000661476 pathogenic Hereditary cancer-predisposing syndrome 2018-04-02 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000662725 SCV000785487 likely pathogenic Fanconi anemia, complementation group J; Neoplasm of ovary 2017-08-21 criteria provided, single submitter clinical testing

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