ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)

dbSNP: rs587783377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130909 SCV000185818 pathogenic Hereditary cancer-predisposing syndrome 2013-11-18 criteria provided, single submitter clinical testing ​The c.1114_1116delCTTinsAT pathogenic mutation, located in coding exon 7 of the BRIP1 gene, results from the deletion of three nucleotides and the insertion of two nucleotides, 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).
Invitae RCV000822648 SCV000963458 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2018-11-17 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu372Ilefs*2) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003336221 SCV004044402 pathogenic Familial cancer of breast 2023-06-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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