ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.68dup (p.Ser24fs)

dbSNP: rs1555618716
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467954 SCV000547230 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2023-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 407789). This premature translational stop signal has been observed in individual(s) with prostate cancer (PMID: 29356034). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ser24Valfs*45) 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).
Ambry Genetics RCV000571820 SCV000661525 pathogenic Hereditary cancer-predisposing syndrome 2023-02-07 criteria provided, single submitter clinical testing The c.68dupC pathogenic mutation, located in coding exon 1 of the BRIP1 gene, results from a duplication of C at nucleotide position 68, causing a translational frameshift with a predicted alternate stop codon (p.S24Vfs*45). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation.
Color Diagnostics, LLC DBA Color Health RCV000571820 SCV000910180 pathogenic Hereditary cancer-predisposing syndrome 2017-10-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003335327 SCV004044262 pathogenic Familial cancer of breast 2023-05-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003335327 SCV004211318 likely pathogenic Familial cancer of breast 2022-12-05 criteria provided, single submitter clinical testing

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