ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.903del (p.Leu301fs)

dbSNP: rs876659490
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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 RCV000223526 SCV000276025 pathogenic Hereditary cancer-predisposing syndrome 2023-05-24 criteria provided, single submitter clinical testing The c.903delG pathogenic mutation, located in coding exon 6 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 903, causing a translational frameshift with a predicted alternate stop codon (p.L301Ffs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV001201525 SCV001372599 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu301Phefs*2) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with colorectal cancer (PMID: 30256826). ClinVar contains an entry for this variant (Variation ID: 232007). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001201525 SCV002804501 likely pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2021-07-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003335257 SCV004045159 pathogenic Familial cancer of breast 2023-06-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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