Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants

Table 5 BRCA1 and BRCA2 variants of unknown significance detected in families with breast and ovarian cancer

Gene	Exon	HGVS nomenclature	HGVS protein	ACMG classification	gnomAD exomes	gnomAD genomes
BRCA1	11	c.1661 A > G	p.Glu554Gly	Likely benign	No data	No data
	11	c.3047 A > G	p.Asn1016Ser	Likely benign	No data	No data
	11	c.4046 C > G	p.Thr1349Arg	Likely benign	No data	No data
	17	c.5017_5019delCAC	p.His1673delHis	Uncertain significance	No data	No data
BRCA2
	7	c.632–3 C > G	(intron 7)	Pathologic	0.00000411	No data
		c.68-7del		Uncertain significance	No data	No data
	7	c.565G > T	p.Asp189Tyr	Uncertain significance	No data	No data
	10	c.1096T > G	p.Leu366Val	Likely benign	0.0000281	No data
	11	c.3170 A > G	p.Lys1057Arg	Uncertain significance	No data	No data
	11	c.3299 A > T	p.Asn1100Ile	Uncertain significance	0.0000131	No data
	11	c.3794G > A	p.Cys1265Tyr	Likely benign	No data	No data
	11	c.5729 A > T	p.Asn1910Ile	Likely benign	No data	0.0000318
	26	c.9530 A > G	p.Glu3177Gly	Uncertain significance	0.00000796	No data

ISSN: 1897-4287