Putative mutations found in genes other than BRCA1 and BRCA2
| Family number(s) | Gene | Type | Description and consequence | CADD | SIFT | PolyPhen2.0 | LRT | MutationTaster |
|---|---|---|---|---|---|---|---|---|
| 1 | ATM | frameshift | c.3802delG (p.Val1268*) | 41 | damaging | disease_causing_automatic | ||
| 2 | ATM | splicing | c.4909+1G>A (IVS 32+1G>A) | 21.9 | . | disease_causing | ||
| 3 | ATM | frameshift | c.7180dupT (p.Ser2394Phefs*9) | 41 | damaging | |||
| 4 | ATM | splicing | c.8851–1G>T (IVS 62–1G>T) | 20.7 | disease_causing | |||
| 5 | ATM | nonsense | c.8266A>T (p.Lys2756*) | 50 | damaging due to stop | no alignment | disease_causing | |
| 6 | ATM | missense | c.6820G>A (p.Ala2274Thr) | 35 | damaging | probably damaging | damaging | disease_causing |
| 7 | ATM | missense | c.8158G>C (p.Asp2720His) | 27.9 | damaging | probably damaging | damaging | disease_causing |
| 8 | ATM | missense | c.7271T>G (p.Val2424Gly) | 26.1 | damaging | probably damaging | damaging | disease_causing_automatic |
| 9 | BARD1 | frameshift | c.627_628delAA (p.Lys209Asnfs*4) | 35 | damaging | disease_causing_automatic | ||
| 10 | BARD1 | nonsense | c.1652C>G (p.Ser551*) | 23.8 | damaging due to stop | no alignment | disease_causing_automatic | |
| 11 | BARD1 | missense | c.2317C>T (p.Leu773Phe) | 21.8 | damaging | probably damaging | damaging | disease_causing |
| 12 | BARD1 | missense | c.1915T>C (p.Cys639Arg) | 19.56 | damaging | probably damaging | damaging | disease_causing |
| 13†–14 | BRIP1 | missense | c.1660C>G (p.Gln554Glu) | 16.31 | tolerated | possibly damaging | damaging | disease_causing |
| 15–17 | BRIP1 | nonsense | c.2392C>T (p.Arg798*) | 39 | damaging due to stop | no alignment | disease_causing_automatic | |
| 18‡ | BRIP1 | missense | c.2563C>T (p.Arg855Cys) | 17.54 | damaging | probably damaging | damaging | disease_causing |
| 19–25 | BRIP1 | missense | c.517C>T(p.Arg173Cys) | 20.8 | damaging | probably damaging | neutral | disease_causing |
| 26 | BRIP1 | missense | c.2220G>T (p.Gln740His) | 10.44 | damaging | probably damaging | damaging | disease_causing |
| 27 | BRIP1 | missense | c.1981T>C (p.Cys661Arg) | 18.66 | tolerated | probably damaging | damaging | disease_causing |
| 28 | BRIP1 | missense | c.415T>G(p.Ser139Ala) | 23.9 | tolerated | possibly damaging | damaging | disease_causing |
| 29 | CDH1 | missense | c.2329G>A (p.Asp777Asn) | 35 | tolerated | probably damaging | damaging | disease_causing |
| 30 | CDK4 | missense | c.625C>T (p.Arg209Cys) | 11.99 | damaging | benign | damaging | disease_causing |
| 31–39 | CHEK2 | frameshift | c.1100delC (p.Thr367Metfs*15) | 42 | damaging | disease_causing_automatic | ||
| 40 | CHEK2 | frameshift | c.1263delT (p.Ser422Valfs*15) | 41 | damaging | disease_causing_automatic | ||
| 41 | CHEK2 | splicing | c.684–2A>G (IVS 6–2A>G) | 14.75 | disease_causing | |||
| 42 | CHEK2 | splicing | c.444+1G>A (IVS 3+1G>A) | 8.431 | . | disease_causing | ||
| 43 | CHEK2 | frameshift | c.629_632delCAGT (p.Ser210Phefs*6) | 23.8 | neutral | disease_causing_automatic | ||
| 44 | CHEK2 | nonsense | c.1528C>T (p.Gln510*) | 47 | damaging due to stop | no alignment | disease_causing | |
| 45 | MRE11A | missense | c.1496A>G (p.Glu499Gly) | 14.66 | tolerated | possibly damaging | damaging | disease_causing |
| 46 | MRE11A | missense | c.1139G>A (p.Arg380His) | 26.1 | damaging | probably damaging | damaging | disease_causing |
| 47 | MRE11A | missense | c.391G>A (p.Asp131Asn) | 27 | damaging | possibly damaging | damaging | disease_causing |
| 48 | MRE11A | missense | c.529G>A (p.Ala177Thr) | 27.7 | damaging | probably damaging | damaging | disease_causing |
| 49 | NBN | frameshift | c.698_701delAACA (p.Lys233Serfs*5) | 15 | neutral | disease_causing_automatic | ||
| 50 | PALB2 | splicing | c.1685–2A>G (IVS 5–2A>G) | 10.41 | . | disease_causing | ||
| 51 | PALB2 | frameshift | c.1947dupA (p.Glu650Argfs*13) | 17.86 | damaging | |||
| 52 | PALB2 | frameshift | c.2235delA (p.Ala746Hisfs*18) | 35 | damaging | disease_causing_automatic | ||
| 53 | PALB2 | frameshift | c.2982dupT (p.Ala995Cysfs*16) | 31 | damaging | |||
| 54 | PALB2 | nonsense | c.196C>T (p.Gln66*) | 35 | damaging due to stop | no alignment | disease_causing_automatic | |
| 55 | PALB2 | missense | c.2674G>A (p.Glu892Lys) | 20.8 | damaging | probably damaging | damaging | disease_causing |
| 56–60 | PALB2 | nonsense | c.3113G>A (p.Trp1038*) | 42 | damaging due to stop | no alignment | disease_causing_automatic | |
| 61–63 | PALB2 | missense | c.2816T>G (p.Leu939Trp) | 20.9 | damaging | probably damaging | damaging | disease_causing |
| 64 | PTEN | missense | c.424C>T (p.Arg142Trp) | 24.1 | tolerated | probably damaging | damaging | disease_causing |
| 65 | RAD50 | frameshift | c.1017dupC (p.Asn340Glnfs*10) | 19.68 | damaging | |||
| 66 | RAD51C | frameshift | c.851_854delCAAT (p.Asn284Argfs*2) | 28.8 | damaging | disease_causing_automatic | ||
| 67 | RAD51D | frameshift | c.752delT (p.Ile251Lysfs*59) | 28.4 | damaging | disease_causing | ||
| 68 | RAD51D | missense | c.286G>T (p.Gly96Cys) | 19.26 | damaging | damaging | disease_causing | |
| 69 | RAD51D | missense | c.739G>T (p.Val247Leu) | 13.42 | damaging | damaging | disease_causing | |
| 70 | STK11 | probably splicing | c.375–8C>A (IVS 3–8C>A)§ | 2.894 | . | . | . | . |
| 71 | TP53 | missense | c.1163A>C (p.Glu388Ala) | 14.93 | damaging | possibly damaging | damaging | disease_causing |
| 72 | TP53 | missense | c.736A>G (p.Met246Val) | 20.2 | damaging | probably damaging | damaging | disease_causing |
| 73 | TP53 | missense | c.1009C>T (p.Arg337Cys) | 9.719 | damaging | possibly damaging | damaging | disease_causing |
| 74 | TP53 | missense | c.743G>A (p.Arg248Gln) | 27.3 | damaging | probably damaging | damaging | disease_causing_automatic |
| 75 | TP53 | missense | c.784G>A (p.Gly262Ser) | 33 | damaging | probably damaging | damaging | disease_causing |
| 76 | TP53 | missense | c.584T>C (p.Ile195Thr) | 13.73 | damaging | probably damaging | neutral | disease_causing |
†Family also carries BRCA1c.547+1G>T.
‡Family also carries BRCA2 c.51_52delAC (p.Arg18Leufs*12).
§MaxEnt scores are wildtype −5.88; variant 5.68. Variation between wildtype and variant: −196.6%.