ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1510del (p.Ile504fs)

dbSNP: rs775735278
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464669 SCV000547238 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile504Serfs*22) 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 premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 26315354). ClinVar contains an entry for this variant (Variation ID: 407794). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001011957 SCV001172346 pathogenic Hereditary cancer-predisposing syndrome 2023-09-01 criteria provided, single submitter clinical testing The c.1510delA pathogenic mutation, located in coding exon 10 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 1510, causing a translational frameshift with a predicted alternate stop codon (p.I504Sfs22). In one study, this alteration was observed in 1/3236 cases with invasive epithelial ovarian cancer and 0/3431 controls (Ramus SJ et al. J. Natl. Cancer Inst., 2015 Nov;107:). In addition to the information presented in the literature, 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268481 SCV001447442 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001011957 SCV002053298 pathogenic Hereditary cancer-predisposing syndrome 2021-03-22 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 11 of the BRIP1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with ovarian cancer (PMID: 26315354). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRIP1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV003335328 SCV004043407 pathogenic Familial cancer of breast 2023-06-02 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 RCV003335328 SCV004217144 pathogenic Familial cancer of breast 2023-02-20 criteria provided, single submitter clinical testing

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