ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.321_337del (p.Phe108fs)

dbSNP: rs1603366250
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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 RCV001019261 SCV001180593 pathogenic Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing The c.321_337del17 pathogenic mutation, located in coding exon 3 of the BRIP1 gene, results from a deletion of 17 nucleotides at nucleotide positions 321 to 337, causing a translational frameshift with a predicted alternate stop codon (p.F108Tfs*4). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003769510 SCV004609500 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2023-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe108Thrfs*4) 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: 823210). For these reasons, this variant has been classified as Pathogenic.

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