Submissions for variant NM_007294.4(BRCA1):c.2600A>G (p.Gln867Arg)

dbSNP: rs397508985

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002433537	SCV002745488	uncertain significance	Hereditary cancer-predisposing syndrome	2020-04-29	criteria provided, single submitter	clinical testing	The p.Q867R variant (also known as c.2600A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 2600. The glutamine at codon 867 is replaced by arginine, an amino acid with highly similar properties. This alteration was identified in a cohort of over 30,000 Chinese individuals with breast and/or ovarian cancer (Bhaskaran SP et al. Int. J. Cancer, 2019 08;145:962-973). 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.
University of Washington Department of Laboratory Medicine, University of Washington	RCV002433537	SCV003851045	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).
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000577062	SCV000679235	not provided	Familial cancer of breast		no assertion provided	literature only