Submissions for variant NM_032043.3(BRIP1):c.2575+5G>A

dbSNP: rs587780241

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116145	SCV000150054	uncertain significance	not provided	2013-11-05	criteria provided, single submitter	clinical testing	This variant is denoted BRIP1 IVS18+5G>A or c.2575+5G>A and consists of a G>A nucleotide substitution at the +5 position of intron 18 of the BRIP1 gene. Multiple in silico splicing models predict this variant to weaken the natural splice donor site for exon 18 and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 c.2575+5G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on the currently available information, we consider BRIP1 c.2575+5G>A to be a variant of uncertain significance.
Ambry Genetics	RCV004948181	SCV005553014	uncertain significance	Hereditary cancer-predisposing syndrome	2024-10-07	criteria provided, single submitter	clinical testing	The c.2575+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 17 in the BRIP1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.