ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.308del (p.Gly103fs)

dbSNP: rs1555617834
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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 RCV000561824 SCV000661586 pathogenic Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing The c.308delG pathogenic mutation, located in coding exon 3 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 308, causing a translational frameshift with a predicted alternate stop codon (p.G103Efs*54). 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 RCV001858090 SCV002229833 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2022-02-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 479468). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly103Glufs*54) 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).

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