Submissions for variant NM_032043.3(BRIP1):c.1389A>G (p.Ser463=)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV003382362	SCV004098126	likely benign	Hereditary cancer-predisposing syndrome	2023-07-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477088	SCV004220684	uncertain significance	not provided	2023-04-26	criteria provided, single submitter	clinical testing	This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRIP1 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005216078	SCV005857747	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-02-03	criteria provided, single submitter	clinical testing