Submissions for variant NM_032043.3(BRIP1):c.3077C>T (p.Ser1026Leu)

dbSNP: rs2061320985

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001189532	SCV001356842	uncertain significance	Hereditary cancer-predisposing syndrome	2020-09-03	criteria provided, single submitter	clinical testing	This missense variant replaces serine with leucine at codon 1026 of the BRIP1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. 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). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV001189532	SCV005029199	uncertain significance	Hereditary cancer-predisposing syndrome	2023-10-05	criteria provided, single submitter	clinical testing	The p.S1026L variant (also known as c.3077C>T), located in coding exon 19 of the BRIP1 gene, results from a C to T substitution at nucleotide position 3077. The serine at codon 1026 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.