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) |