ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs)

dbSNP: rs2077610620
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208549 SCV001379943 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2019-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals with BRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln561Hisfs*2) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002402611 SCV002710680 pathogenic Hereditary cancer-predisposing syndrome 2019-11-21 criteria provided, single submitter clinical testing The c.1683_1684delGA pathogenic mutation, located in coding exon 11 of the BRIP1 gene, results from a deletion of two nucleotides at nucleotide positions 1683 to 1684, causing a translational frameshift with a predicted alternate stop codon (p.Q561Hfs*2). 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493821 SCV004242902 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing

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