Submissions for variant NM_032043.3(BRIP1):c.56A>C (p.Tyr19Ser)

dbSNP: rs876660880

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001524361	SCV001734180	uncertain significance	Hereditary cancer-predisposing syndrome	2020-10-08	criteria provided, single submitter	clinical testing	This missense variant replaces tyrosine with serine at codon 19 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	RCV001524361	SCV002647495	uncertain significance	Hereditary cancer-predisposing syndrome	2024-09-09	criteria provided, single submitter	clinical testing	The p.Y19S variant (also known as c.56A>C), located in coding exon 1 of the BRIP1 gene, results from an A to C substitution at nucleotide position 56. The tyrosine at codon 19 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.