Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Breast Cancer Research

Table 2 Predicting the effects of PALB2 missense variants on protein function using three in silico methods.

Nucleotide change	Protein change	Carrier frequency (%)	SIFT ^a	Align GVGD ^b	Polyphen ^c
c.90G>T	p.Lys30Asn	1 (0.1)	Affect protein function; P = 0.04	Class C0	Probably damaging 0.999
c.94C>G	p.Leu32Val	1 (0.1)	Tolerated; P = 0.37	Class C0	Probably damaging 1.000
c.596A>G	p.Asp219Gly	1 (0.1)	Tolerated; P = 0.65	Class C0	Benign 0.000
c.956C>A	p.Ser319Tyr	1 (0.1)	Tolerated; P = 0.91	Class C0	Possibly damaging 0.589
c.1010T>C	p.Leu337Ser	25 (3.3)	Tolerated; P = 0.59	Class C0	Benign 0.291
c.1475G>T	p.Gly492Val	1 (0.1)	Tolerated; P = 0.17	Class C0	Benign 0.161
c.1676A>G	p.Gln559Arg	72 (9.6)	Tolerated; P = 0.57	Class C0	Benign 0.000
c.2014G>C	p.Glu672Gln	51 (6.8)	Tolerated; P = 0.48	Class C0	Benign 0.225
c.2590C>T	p.Pro864Ser	1 (0.1)	Tolerated; P = 0.68	Class C0	Possibly damaging 0.578
*c.2993G>A* ^*	*p.Gly998Glu*	*17 (0.9)*	*Affect protein function; p = 0.00*	*Class C65*	*Probably damaging 1.000*

^*Predicted to affect protein function by all three programs. ^aKumar et al.(2009) [24]; Ng et al (2003) [25]. ^bTavtigian et al. (2006) [27]; Mathe et al. (2006) [28]; Tavtigian et al. (2008) [29]. ^cAdzhubei et al. (2010) [31].

ISSN: 1465-542X