ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1461del (p.Ile489fs)

dbSNP: rs1555605866
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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 RCV000565670 SCV000661541 pathogenic Hereditary cancer-predisposing syndrome 2016-06-21 criteria provided, single submitter clinical testing The c.1461delT pathogenic mutation, located in coding exon 9 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 1461, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Color Diagnostics, LLC DBA Color Health RCV000565670 SCV004362939 pathogenic Hereditary cancer-predisposing syndrome 2023-05-11 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 10 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. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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.

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