ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)

dbSNP: rs2144678308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993249 SCV002232915 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2024-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser766Argfs*14) 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 variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1451419). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002458880 SCV002738129 pathogenic Hereditary cancer-predisposing syndrome 2019-01-30 criteria provided, single submitter clinical testing The c.2298_2301delTGAG pathogenic mutation, located in coding exon 15 of the BRIP1 gene, results from a deletion of 4 nucleotides at nucleotide positions 2298 to 2301, causing a translational frameshift with a predicted alternate stop codon (p.S766Rfs*14). 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.
Myriad Genetics, Inc. RCV003336471 SCV004043068 pathogenic Familial cancer of breast 2023-06-06 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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