ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.396_400del (p.Thr133fs)

dbSNP: rs1555616206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565228 SCV000668971 pathogenic Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing The c.396_400delCACTC pathogenic mutation, located in coding exon 4 of the BRIP1 gene, results from a deletion of 5 nucleotides at nucleotide positions 396 to 400, causing a translational frameshift with a predicted alternate stop codon (p.T133Gfs*7). 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. RCV003335509 SCV004042929 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.

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