Submissions for variant NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser)

gnomAD frequency: 0.00001  dbSNP: rs786203689

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000167105	SCV000217935	uncertain significance	Hereditary cancer-predisposing syndrome	2022-12-24	criteria provided, single submitter	clinical testing	The p.N877S variant (also known as c.2630A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2630. The asparagine at codon 877 is replaced by serine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
Invitae	RCV000705043	SCV000834022	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000167105	SCV000909336	likely benign	Hereditary cancer-predisposing syndrome	2017-01-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170819	SCV001333437	uncertain significance	Breast and/or ovarian cancer	2017-11-15	criteria provided, single submitter	clinical testing
University of Washington Department of Laboratory Medicine, University of Washington	RCV000167105	SCV003851022	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).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003321535	SCV004026786	uncertain significance	not specified	2023-08-15	criteria provided, single submitter	clinical testing