Unique variants in the ATM gene

Information The variants shown are described using the NM_000051.3 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-111G>A r.(=) p.(=) - benign g.108093833G>A g.108223106G>A - - ATM_000648 - - - rs189037 Germline - Frequency up to 50% - - - Andreas Laner
-/. 1 - c.-30-79A>G r.(=) p.(=) - benign g.108098243A>G g.108227516A>G ATM(NM_000051.3):c.-30-79A>G - ATM_001266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 1 - c.-30-57_-30-54del r.(=) p.(=) - likely benign g.108098265_108098268del g.108227538_108227541del ATM(NM_000051.3):c.-30-57_-30-54delCTCT - ATM_001434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 1 - c.-30-56T>C r.(=) p.(=) - likely benign g.108098266T>C - - - ATM_003076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-30-44T>C r.(=) p.(=) - likely benign g.108098278T>C g.108227551T>C ATM(NM_000051.3):c.-30-44T>C - ATM_001435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 1 - c.-18G>A r.(?) p.(=) - likely benign g.108098334G>A - - - ATM_001648 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ?/. 64 16, 17, 18, 19, 20, 21, 23, 26, 30, 33, 34, 37, 38, 4, 40, 43, 45, 46, 48, 50, 54, 56, 59, 6, 62, 8 c.? r.-30_185del, r.186_331del, r.2125_2250del126, r.2250_2251ins9, r.2251_2376del, r.2377_2466del, 28 more items p.0?, p.?, p.Ala2067Glnfs*10, p.Ala823_Met946del124, p.Asn2326_Lys2363del, p.Asp1371Ilefs*38, 25 more items - pathogenic, VUS g.? - 2377del90, inserted nucleotides not specified - ATM_000001, ATM_000009, ATM_000021, ATM_000151, ATM_000186, ATM_000190, ATM_000191, ATM_000192, 23 more items aberrant splicing, exon 16 deleted in cDNA, exon 21 deleted in cDNA, exon 23 and 24 skipped, 21 more items - - - Germline - - - - - Patrick Concannon
+/., ?/. 3 - c.1A>G r.(?), r.? p.(Met1?), p.? - NA, pathogenic g.108098352A>G g.108227625A>G chr11_108098352_A_G - ATM_001233 1 more item Fiévet 2019, submitted, PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - Alice Fiévet, BRIDGES consortium
+/., ?/. 5 4 c.2T>C r.(?), r.? p.0?, p.? - NA, pathogenic g.108098353T>C g.108227626T>C (Met1Thr), chr11_108098353_T_C - ATM_000002 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - Patrick Concannon, BRIDGES consortium
+/., ?/. 4 4 c.3G>A r.(?), r.? p.0?, p.? - NA, pathogenic g.108098354G>A g.108227627G>A (Met1Ile), chr11_108098354_G_A - ATM_000414 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 3/60466 cases - - - Patrick Concannon, BRIDGES consortium
?/. 1 2 c.13C>A r.(?) p.(Leu5Ile) - VUS g.108098364C>A - - - ATM_000798 1 more item PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 1 - c.13C>G r.(?) p.(Leu5Val) - NA g.108098364C>G - chr11_108098364_C_G - ATM_001712 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 2 c.22C>T r.(?) p.(=) - VUS g.108098373C>T g.108227646C>T - - ATM_000799 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 1 - c.25C>A r.(?) p.(Leu9Ile) - NA g.108098376C>A - chr11_108098376_C_A - ATM_001713 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 4 c.27del r.(?) p.(Ile10Serfs*6) - VUS g.108098378del g.108227651del 27_27delT - ATM_000003 - - - - Germline - - - - - Patrick Concannon
-?/., ?/. 5 2 c.37C>T r.(?) p.(Arg13Cys) - likely benign, NA, VUS g.108098388C>T g.108227661C>T ATM(NM_000051.3):c.37C>T (p.R13C), chr11_108098388_C_T - ATM_000800 not in 7051 cases breast cancer, VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs141586345 CLASSIFICATION record, Germline - 1/12490 controls, 2/11241 controls, 2/53461 controls, 2/60466 cases - - - Yukihide Momozawa, VKGL-NL_NKI, BRIDGES consortium
?/. 2 - c.38G>A r.(?) p.(Arg13His) - NA g.108098389G>A - chr11_108098389_G_A - ATM_001714 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.43del r.(?) p.(Leu15*) - NA g.108098394del - chr11_108098393_AC_A - ATM_001715 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.49C>A r.(?) p.(His17Asn) - NA g.108098400C>A - chr11_108098400_C_A - ATM_001716 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/53461 controls, 5/60466 cases - - - BRIDGES consortium
?/. 1 - c.50A>G r.(?) p.(His17Arg) - NA g.108098401A>G - chr11_108098401_A_G - ATM_001717 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.52del r.(?) p.(Asp18Ilefs*16) - NA g.108098403del - chr11_108098402_TG_T - ATM_001718 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 2 c.52G>C r.(?) p.(Asp18His) - VUS g.108098403G>C g.108227676G>C - - ATM_000801 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
-?/. 1 - c.66A>G r.(?) p.(Glu22=) - likely benign g.108098417A>G g.108227690A>G - - ATM_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 - c.67C>G r.(?) p.(Arg23Gly) - NA, VUS g.108098418C>G g.108227691C>G ATM(NM_001351834.2):c.67C>G (p.R23G), chr11_108098418_C_G - ATM_000767 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, BRIDGES consortium
+/., ?/. 4 4 c.67C>T r.(?) p.(Arg23*), p.(Arg23Ter) - NA, pathogenic g.108098418C>T g.108227691C>T ATM(NM_000051.3):c.67C>T (p.R23*), ATM(NM_001351834.2):c.67C>T (p.R23*), chr11_108098418_C_T - ATM_000486 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - Monica Martinez-Gallo, VKGL-NL_Groningen, VKGL-NL_NKI, BRIDGES consortium
+/., ?/. 3 - c.68G>A r.(?) p.(Arg23Gln) - NA, pathogenic g.108098419G>A g.108227692G>A chr11_108098419_G_A - ATM_001234 1 more item Fiévet 2019, submitted, PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - Alice Fiévet, BRIDGES consortium
+/. 1 2i c.72+1G>A r.spl p.? - pathogenic g.108098424G>A g.108227697G>A - - ATM_000802 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs786204088 Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 4 c.72+2T>C r.spl p.? - VUS g.108098425T>C g.108227698T>C - - ATM_000004 - - - - Germline - - - - - Patrick Concannon
-?/. 1 - c.72+12C>T r.(=) p.(=) - likely benign g.108098435C>T - - - ATM_003077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.72+22A>T r.(=) p.(=) - likely benign g.108098445A>T g.108227718A>T ATM(NM_000051.3):c.72+22A>T - ATM_001268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 1 - c.72+37A>G r.(=) p.(=) - likely benign g.108098460A>G g.108227733A>G ATM(NM_000051.3):c.72+37A>G - ATM_000664 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 4 - c.72+37_72+38del r.(=) p.(=) - benign g.108098460_108098461del g.108227733_108227734del ATM(NM_000051.3):c.72+37_72+38delAA - ATM_000649 VKGL data sharing initiative Nederland - - rs2066734 CLASSIFICATION record, Germline - Frequency up to 40% - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_NKI
-?/. 1 - c.72+38A>C r.(=) p.(=) - likely benign g.108098461A>C g.108227734A>C ATM(NM_000051.3):c.72+38A>C - ATM_001269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 1 - c.73-2A>G r.spl? p.? - NA g.108098501A>G - chr11_108098501_A_G - ATM_001719 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.74A>G r.(?) p.(Lys25Arg) - NA g.108098504A>G - chr11_108098504_A_G - ATM_001720 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.76G>C r.(?) p.(Glu26Gln) - NA g.108098506G>C - chr11_108098506_G_C - ATM_001721 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.78A>T r.(?) p.(Glu26Asp) - NA g.108098508A>T - chr11_108098508_A_T - ATM_001722 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 5 3 c.94C>T r.(?) p.(Arg32Cys) - NA, VUS g.108098524C>T g.108227797C>T ATM(NM_000051.3):c.94C>T (p.R32C), chr11_108098524_C_T - ATM_000665 not in 11241 controls, VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs148061139 CLASSIFICATION record, Germline - 1/12487 controls, 1/7051 cases breast cancer, 2/60466 cases, 6/53461 controls - - - Yukihide Momozawa, VKGL-NL_Groningen, BRIDGES consortium
?/. 2 - c.95G>A r.(?) p.(Arg32His) - NA g.108098525G>A - chr11_108098525_G_A - ATM_001723 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.103C>G r.(?) p.(Arg35Gly) - NA, VUS g.108098533C>G g.108227806C>G chr11_108098533_C_G - ATM_000804 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/60466 cases, 2/12487 controls - - - Yukihide Momozawa, BRIDGES consortium
+/., ?/. 13 5 c.103C>T r.(?) p.(Arg35*), p.(Arg35Ter) - NA, pathogenic, VUS g.108098533C>T g.108227806C>T ATM(NM_000051.3):c.103C>T (p.R35*), chr11_108098533_C_T - ATM_000005 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases, 2/53461 controls - - - Patrick Concannon, VKGL-NL_Groningen, BRIDGES consortium
-?/., ?/. 2 - c.104G>A r.(?) p.(Arg35Gln) - likely benign, NA g.108098534G>A g.108227807G>A chr11_108098534_G_A - ATM_001436 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - VKGL-NL_Nijmegen, BRIDGES consortium
?/. 3 3 c.107A>G r.(?) p.(Asp36Gly) - VUS g.108098537A>G g.108227810A>G - - ATM_000803 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/11241 controls, 2/12487 controls, 2/7051 cases breast cancer - - - Yukihide Momozawa
-?/., ?/. 3 - c.115A>G r.(?) p.(Thr39Ala) - likely benign, NA g.108098545A>G - chr11_108098545_A_G - ATM_001649 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 14/53461 controls, 6/60466 cases - - - VKGL-NL_Nijmegen, BRIDGES consortium
?/. 1 - c.116C>T r.(?) p.(Thr39Ile) - NA g.108098546C>T - chr11_108098546_C_T - ATM_001724 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.121A>G r.(?) p.(Lys41Glu) - NA g.108098551A>G - chr11_108098551_A_G - ATM_001725 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 3 c.124C>T r.(?) p.(His42Tyr) - VUS g.108098554C>T g.108227827C>T - - ATM_000805 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
-/., ?/. 5 3 c.125A>G r.(?) p.(His42Arg) - benign, NA g.108098555A>G g.108227828A>G chr11_108098555_A_G - ATM_000806 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201773026 Germline - 20/7051 cases breast cancer, 26/11241 controls, 26/53461 controls, 28/60466 cases, 34/12490 controls - - - Yukihide Momozawa, BRIDGES consortium
?/. 1 5 c.128T>C r.(?) p.(Leu43Pro) - VUS g.108098558T>C g.108227831T>C - - ATM_000426 - - - - Germline - - - - - Patrick Concannon
?/. 2 - c.131A>G r.(?) p.(Asp44Gly) - NA, VUS g.108098561A>G g.108227834A>G ATM(NM_001351834.1):c.131A>G (p.D44G), chr11_108098561_A_G - ATM_001539 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/53461 controls - - - VKGL-NL_Rotterdam, BRIDGES consortium
?/. 2 - c.133C>T r.(?) p.(Arg45Trp) - NA g.108098563C>T - chr11_108098563_C_T - ATM_001726 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 6/53461 controls, 7/60466 cases - - - BRIDGES consortium
?/. 3 3 c.134G>A r.(?) p.(Arg45Gln) - VUS g.108098564G>A g.108227837G>A - - ATM_000807 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs762382111 Germline - 2/12490 controls, 3/11241 controls, 5/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.135G>A r.(?) p.(=) - VUS g.108098565G>A g.108227838G>A - - ATM_000809 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 5 c.138_141del r.(?) p.(His46Glnfs*9) - VUS g.108098568_108098571del g.108227841_108227844del 138_141delTTCA - ATM_000006 - - - - Germline - - - - - Patrick Concannon
-/., -?/., ?/. 11 5 c.146C>G r.(?) p.(Ser49Cys) - benign, likely benign, VUS g.108098576C>G g.108227849C>G ATM(NM_000051.3):c.146C>G (p.S49C, p.(Ser49Cys)) - ATM_000007 known unaffected homozygotes for this variant, There are known unaffected homozygotes for this variant, 1 more item - - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Leiden, Patrick Concannon, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_NKI
?/. 1 - c.146C>T r.(?) p.(Ser49Phe) - NA g.108098576C>T - chr11_108098576_C_T - ATM_001727 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 1 - c.154G>T r.(?) p.(Gly52*) - pathogenic g.108098584G>T g.108227857G>T - - ATM_001526 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730881362 Germline - 1/2792 individuals - - - Mohammed Faruq
-/., -?/. 6 - c.162T>C r.(?) p.(Tyr54=) - benign, likely benign g.108098592T>C g.108227865T>C ATM(NM_000051.3):c.162T>C (p.Y54=) - ATM_000666 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_NKI
?/. 1 - c.168T>G r.(?) p.(Asn56Lys) - NA g.108098598T>G - chr11_108098598_T_G - ATM_001728 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 5 c.170G>A r.(?) p.(Trp57*) - VUS g.108098600G>A g.108227873G>A - - ATM_000008 - - - - Germline - - - - - Patrick Concannon
?/. 1 - c.175_176delinsAT r.(?) p.(Ala59Ile) - NA g.108098605_108098606delinsAT - chr11_108098605_GC_AT - ATM_001729 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.181T>C r.(?) p.(Phe61Leu) - VUS g.108098611T>C g.108227884T>C - - ATM_000810 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/12490 controls - - - Yukihide Momozawa
?/. 2 - c.184A>G r.(?) p.(Arg62Gly) - NA g.108098614A>G - chr11_108098614_A_G - ATM_001730 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
-?/. 1 - c.185+82G>A r.(=) p.(=) - likely benign g.108098697G>A g.108227970G>A ATM(NM_000051.3):c.185+82G>A - ATM_001437 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 1 - c.186-73A>G r.(=) p.(=) - likely benign g.108099832A>G g.108229105A>G ATM(NM_000051.3):c.186-73A>G - ATM_001438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 1 - c.186-50T>C r.(=) p.(=) - likely benign g.108099855T>C g.108229128T>C - - ATM_001270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.186-42G>T r.(=) p.(=) - likely benign g.108099863G>T g.108229136G>T - - ATM_001439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.186-31G>A r.(=) p.(=) - likely benign g.108099874G>A g.108229147G>A - - ATM_001271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 4 - c.186-17A>G r.(=) p.(=) - benign g.108099888A>G g.108229161A>G ATM(NM_000051.3):c.186-17A>G - ATM_000775 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_NKI
-/., -?/. 4 - c.186-7C>T r.(=) p.(=) - benign, likely benign g.108099898C>T g.108229171C>T ATM(NM_000051.3):c.186-7C>T - ATM_000776 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 - c.191del r.(?) p.(Leu64Tyrfs*12) - pathogenic g.108099910del g.108229183del - - ATM_000811 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 - c.202A>G r.(?) p.(Ile68Val) - NA g.108099921A>G - chr11_108099921_A_G - ATM_001731 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/., ?/. 2 6 c.217_218del r.(?) p.(Glu73Metfs*26), p.(Glu73MetfsTer26) - pathogenic, VUS g.108099936_108099937del g.108229209_108229210del 217_218delGA, ATM(NM_000051.3):c.217_218delGA (p.E73Mfs*26) - ATM_000010, ATM_000777 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Patrick Concannon, VKGL-NL_Groningen
?/. 1 - c.226A>C r.(?) p.(=) - VUS g.108099945A>C g.108229218A>C - - ATM_000812 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 4/12490 controls - - - Yukihide Momozawa
?/. 1 4 c.232G>A r.(?) p.(Ala78Thr) - VUS g.108099951G>A g.108229224G>A - - ATM_000808 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/11241 controls - - - Yukihide Momozawa
?/. 2 - c.251C>T r.(?) p.(Ala84Val) - NA, VUS g.108099970C>T g.108229243C>T chr11_108099970_C_T - ATM_000814 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587781937 Germline - 1/60466 cases, 3/12490 controls - - - Yukihide Momozawa, BRIDGES consortium
?/. 2 4 c.258A>G r.(?) p.(=) - VUS g.108099977A>G g.108229250A>G - - ATM_000813 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs777434093 Germline - 2/7051 cases breast cancer, 5/11241 controls - - - Yukihide Momozawa
?/. 1 - c.272A>C r.(?) p.(Gln91Pro) - NA g.108099991A>C - chr11_108099991_A_C - ATM_001732 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.274A>C r.(?) p.(Lys92Gln) - NA g.108099993A>C - chr11_108099993_A_C - ATM_001733 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
-/. 3 4 c.275A>C r.(?) p.(Lys92Thr) - benign g.108099994A>C g.108229267A>C - - ATM_000815 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs200151849 Germline - 10/12490 controls, 5/7051 cases breast cancer, 8/11241 controls - - - Yukihide Momozawa
?/. 1 - c.283C>A r.(?) p.(Gln95Lys) - VUS g.108100002C>A g.108229275C>A ATM(NM_000051.3):c.283C>A (p.Q95K) - ATM_001440 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 4 6 c.295A>G r.(?) p.(Ser99Gly) - NA, VUS g.108100014A>G g.108229287A>G ATM(NM_000051.3):c.295A>G (p.S99G), chr11_108100014_A_G - ATM_001429 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases, 2/53461 controls - - - Maximiliano Zeballos, VKGL-NL_NKI, BRIDGES consortium
?/. 2 4 c.296G>A r.(?) p.(Ser99Asn) - VUS g.108100015G>A g.108229288G>A - - ATM_000816 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls, 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 6 c.299T>A r.(?) p.(Leu100*) - VUS g.108100018T>A g.108229291T>A - - ATM_000011 - - - - Germline - - - - - Patrick Concannon
?/. 1 4 c.317A>T r.(?) p.(Lys106Ile) - VUS g.108100036A>T g.108229309A>T - - ATM_000817 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
-?/. 1 - c.319T>C r.(?) p.(Cys107Arg) - likely benign g.108100038T>C g.108229311T>C ATM(NM_000051.3):c.319T>C (p.C107R) - ATM_001273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.320G>A r.(?) p.(Cys107Tyr) - likely benign g.108100039G>A - ATM(NM_000051.3):c.320G>A (p.C107Y) - ATM_001571 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 3 4 c.323C>G r.(?) p.(Ala108Gly) - VUS g.108100042C>G g.108229315C>G - - ATM_000818 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs766951228 Germline - 2/7051 cases breast cancer, 3/11241 controls, 6/12490 controls - - - Yukihide Momozawa
?/. 1 6 c.331A>T r.(?) p.(Arg111*) - VUS g.108100050A>T g.108229323A>T - - ATM_000401 - - - - Germline - - - - - Patrick Concannon
+/., +?/., ?/. 6 6 c.331+5G>A r.186_331del146, r.spl? p.(Arg63fs), p.? - likely pathogenic, pathogenic, VUS g.108100055G>A g.108229328G>A ATM(NM_000051.3):c.331+5G>A - ATM_000434 exon 6 deleted in cDNA, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Frans BL Hogervorst, Kotoka Nakamura, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_NKI
-?/. 1 - c.331+27A>G r.(=) p.(=) - likely benign g.108100077A>G - ATM(NM_000051.3):c.331+27A>G - ATM_003078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.331+48C>T r.(=) p.(=) - VUS g.108100098C>T - ATM(NM_000051.3):c.331+48C>T - ATM_001650 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. 1 - c.331+68_331+69dup r.(=) p.(=) - benign g.108100118_108100119dup g.108229391_108229392dup ATM(NM_000051.3):c.331+69_331+70dupTT - ATM_001540 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/. 2 - c.331+69dup r.(=) p.(=) - benign g.108100119dup g.108229392dup ATM(NM_000051.3):c.331+69dupT - ATM_001277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_NKI
-/. 2 - c.332-71A>G r.(=) p.(=) - benign g.108106326A>G g.108235599A>G ATM(NM_000051.3):c.332-71A>G - ATM_000641 VKGL data sharing initiative Nederland - - rs2234996 CLASSIFICATION record, Germline - Frequency uo to 5% - - - Andreas Laner, VKGL-NL_Utrecht
?/. 2 7 c.332-1G>A r.332_496del, r.spl? p.(Arg111_Glu166delinsLys), p.? - NA, VUS g.108106396G>A g.108235669G>A chr11_108106396_G_A - ATM_000012 exon 7 deleted in cDNA, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - Patrick Concannon, BRIDGES consortium
-?/., ?/. 2 - c.334G>A r.(?) p.(Ala112Thr) - likely benign, NA g.108106399G>A - ATM(NM_000051.3):c.334G>A (p.A112T), chr11_108106399_G_A - ATM_001572 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - VKGL-NL_VUmc, BRIDGES consortium
?/. 3 5 c.338C>T r.(?) p.(Pro113Leu) - NA, VUS g.108106403C>T g.108235676C>T chr11_108106403_C_T - ATM_000819 not in 11241 controls, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/53461 controls, 1/60466 cases, 1/7051 cases breast cancer - - - Yukihide Momozawa, BRIDGES consortium
?/. 1 - c.349T>C r.(?) p.(Cys117Arg) - NA g.108106414T>C - chr11_108106414_T_C - ATM_001734 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 7 c.362T>A r.(?) p.(Leu121*) - VUS g.108106427T>A g.108235700T>A - - ATM_000387 - - - - Germline - - - - - Patrick Concannon
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