ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)

gnomAD frequency: 0.00001  dbSNP: rs1483527885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636138 SCV000757570 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2024-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr822Leufs*10) 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 present in population databases (no rsID available, gnomAD 0.1%). 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: 530329). For these reasons, this variant has been classified as Pathogenic.
Breast Care Center, Daerim St. Mary`s Hospital RCV003318380 SCV004021937 pathogenic Hereditary cancer-predisposing syndrome 2023-07-26 criteria provided, single submitter clinical testing The BRIP1:c.2464dupT variant was located in exon 17 of the BRIP1 gene, which predicts to lead to NMD (nonsense-mediated mRNA decay) and loss-of-function resulting from a frameshift. Its frequency is extremely low in gnomAD genomes/exomes. The previous classification in ClinVar is as a pathogenic variant. The patient is a 58-year-old Korean male diagnosed with papillary DCIS breast cancer. He has a family history of colon cancer in his mother, larynx, and pancreatic cancer in second-degree relatives on his paternal side.
Myriad Genetics, Inc. RCV003336105 SCV004045016 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.
Baylor Genetics RCV003336105 SCV004211334 likely pathogenic Familial cancer of breast 2024-03-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000636138 SCV005654107 likely pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2024-02-10 criteria provided, single submitter clinical testing

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