ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2595del (p.Gln866fs)

dbSNP: rs587781974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130366 SCV000185218 pathogenic Hereditary cancer-predisposing syndrome 2013-10-28 criteria provided, single submitter clinical testing ​The c.2595delG pathogenic mutation, located in coding exon 18 of the BRIP1 gene, results from a deletion of one nucleotide at position 2595, 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).

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