Submissions for variant NM_007294.4(BRCA1):c.1631_1632delinsGG (p.Gln544Arg)

dbSNP: rs1555591449

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000548043	SCV000635805	uncertain significance	Hereditary breast ovarian cancer syndrome	2017-06-18	criteria provided, single submitter	clinical testing	Experimental studies and protein effect prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 544 of the BRCA1 protein (p.Gln544Arg).
University of Washington Department of Laboratory Medicine, University of Washington	RCV003157687	SCV003848036	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).