Table 3.

List of variants of uncertain significance identified

Gene Transcript	cDNA change	Protein change	Variant type	Consequence	Sex	Age at diagnosis	Personal history (age)	Familial history (cases)
BRCA2 NM_000059	c.9613_9614delinsCT	p.(Ala3205Leu)	delins	Missense	F	62	none	none
BRCA2 NM_000059	c.1705C > A	p.(Gln569Lys)	SNV	Missense	M	61	none	NA
BRCA2 NM_000059	c.476 T > C	p.(Val159Ala)	SNV	Missense	M	62	kidney (62)	lung (1), kidney (1), stomach (1), esophagus (1)
APC NM_000038	c.1450G > C	p.(Glu484Gln)	SNV	Missense	M	63	none	breast (1), stomach (1), lung (1), brain (1)
APC NM_000038	c.2870A > G	p.(Lys957Arg)	SNV	Missense	M	61	none	none
APC NM_000038	c.2870A > G	p.(Lys957Arg)	SNV	Missense	F	64	breast (40), thyroid (53, 59)	colon (1), stomach (1)
ATM NM_000051	c.5975A > C	p.(Lys1992Thr)	SNV	Missense	M	63	none	breast (1), stomach (1), lung (1), brain (1)
ATM NM_000051	c.1464G > T	p.(Trp488Cys)	SNV	Missense	M	66	none	none
ATM NM_000051	c.8734A > G	p.(Arg2912Gly)	SNV	Missense	M	58	none	none
ATM NM_000051	c.8671 + 17A > G	p.(?)	SNV	Intronic	M	71	NA	NA
ATM NM_000051	c.2376 + 16del	p.(?)	SNV	Intronic	M	71	NA	NA
BARD1 NM_000465	c.2251C > T	p.(Arg751Trp)	SNV	Missense	M	66	none	none
BARD1 NM_000465	c.2027A > G	p.(Tyr676Cys)	SNV	Missense	M	61	none	NA
BRIP1 NM_032043	c.845C > G	p.(Thr282Ser)	SNV	Missense	M	45	none	none
CHEK2 NM_007194	c.793_846del	p. (?)	CNVs	Large deletion	F	79	colon (68), breast (71)	breast (1)
CHEK2 NM_007194	c.500G > A	P. (Gly167Glu)	SNV	Missense	M	61	none	none
CHEK2 NM_007194	c.118A > G	p.(Ser40Gly)	SNV	Missense	F	75	none	NA
MSH6 NM_000179	c.1660C > T	p. (Arg554Cys)	SNV	Missense	F	62	none	none
MSH6 NM_000179	c.3515G > T	p. (Arg1172Ile)	SNV	Missense	F	67	breast (40, 47, 61)	NA
MUTYH NM_001128425	c.1483C > T	p.(Arg495Cys)	SNV	Missense	M	60	prostate (49)	breast (1)
PALB2 NM_024675	c.109_211dup	p. (?)	CNVs	Large duplication	M	62	kidney (62)	lung (1), kidney (1), stomach (1), esophagus (1)
PALB2 NM_024675	c.2453 T > C	p.(Phe818Ser)	SNV	Missense	M	60	prostate (49)	breast (1)
PALB2 NM_024675	c. 3296C > T	p. Thr1099Met	SNV	Missense	M	58	none	pancreas (1), prostate (1)

M Male, F Female, SNV Single Nucleotide Variation, CNVs Copy Number Variations, NA Not available