Submissions for variant NM_007294.4(BRCA1):c.3257T>C (p.Leu1086Ser)

gnomAD frequency: 0.00001  dbSNP: rs80357006

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
University of Washington Department of Laboratory Medicine, University of Washington	RCV003157364	SCV003848931	likely benign	Hereditary cancer-predisposing syndrome	2023-03-23	criteria provided, single submitter	curation	Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Ambry Genetics	RCV003157364	SCV004004370	uncertain significance	Hereditary cancer-predisposing syndrome	2023-06-04	criteria provided, single submitter	clinical testing	The p.L1086S variant (also known as c.3257T>C), located in coding exon 9 of the BRCA1 gene, results from a T to C substitution at nucleotide position 3257. The leucine at codon 1086 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well 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.
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112038	SCV000144690	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2004-02-20	no assertion criteria provided	clinical testing