FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

BMC Medical Genetics

Table 3 RECQL variants identified by Hi-Plex targeted-sequencing, in 427 women affected with breast or ovarian cancer in South-West Poland and West Ukraine

	HGVS_c^a	HGVS_p^a	dbSNP^b	ExAC^c	Polyphen-2^d	CADD^e	# Carriers
Missense substitutions	c.156 T > G	p.Asp52Glu	.	0.00002	0.001,B	5.347	1
	c.386G > A	p.Cys129Tyr	rs187203579	0.00009	0.914,D	22.5	1
	c.1483G > C	p.Asp495His	rs6499	0.00520	0.05, B	16.05	4
	c.1743 T > A	p.Asn581Lys	.	.	0.009,B	12.03	2
Synonymous substitutions	c.87G > A	p.Thr29Thr	.	0.00005			1
	c.393 T > C	p.Asp131Asp		.			1
	c.1536A > T	p.Pro512Pro	.	0.00005			1
	c.1731 T > C	p.Asn577Asn	rs6500	0.08850			67
	c.1899A > G	p.Gln633Gln	rs61754415	0.08832			65

^aVariant nomenclature based on transcript sequence (NM_002907.3), + 1 as A of ATG start codon, according to the Human Genome Variation Society (HGVS), HGVS_c for coding DNA and HGVS_p for protein variants
^bdbSNP 138
^cMinor Allele Frequency (MAF) in ExAC Non-Finnish European population [17]
^dPolyPhen-2 prediction: B, benign; D: damaging [15]
^eCADD phred-scaled score [16]

ISSN: 1471-2350