ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)

dbSNP: rs1603342258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010396 SCV001170589 pathogenic Hereditary cancer-predisposing syndrome 2019-12-17 criteria provided, single submitter clinical testing The c.1222dupT pathogenic mutation, located in coding exon 8 of the BRIP1 gene, results from a duplication of T at nucleotide position 1222, causing a translational frameshift with a predicted alternate stop codon (p.Y408Lfs*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.
Invitae RCV001390858 SCV001592723 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr408Leufs*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: 818629). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003336229 SCV004044404 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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