Full data view for gene ATM

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

5617 entries on 57 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-111G>A r.(=) p.(=) Parent #1 - benign g.108093833G>A g.108223106G>A - - ATM_000648 - - - rs189037 Germline - Frequency up to 50% - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-30-79A>G r.(=) p.(=) Unknown - benign g.108098243A>G g.108227516A>G ATM(NM_000051.3):c.-30-79A>G - ATM_001266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30-57_-30-54del r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30-56T>C r.(=) p.(=) Unknown - likely benign g.108098266T>C - - - ATM_003076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30-44T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18G>A r.(?) p.(=) Unknown - likely benign g.108098334G>A - - - ATM_001648 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.? r.-30_185del p.? Parent #1 - VUS g.? - - - ATM_000001 exons 4 and 5 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 56 c.? r.7928_8010del83 p.Lys2643Serfs*17 Parent #1 - VUS g.? - - - ATM_000289 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 59 c.? r.8269_8584del p.Val2757Leufs*16 Parent #2 - VUS g.? - - - ATM_000302 Exons 59-61 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 59 c.? r.8269_8418del150 p.Val2757_Met2806del Parent #1 - VUS g.? - - - ATM_000301 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 62 c.? r.8672_8850del179 p.Val2892Profs*4 Unknown - VUS g.? - - - ATM_000518 genomic deletion of exons 62, 63; endpoints undefined - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Podralska 2014 - F ? (Poland) - - 0 - - 1 Patrick Concannon
?/. 4 c.? r.-30_185del p.0? Parent #2 - VUS g.? - - - ATM_000001 exons 4 and 5 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 16 c.? r.2125_2250del126 p.Glu709_Lys750del42 Parent #1 - VUS g.? - - - ATM_000009 exon 16 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 16 c.? r.2125_2250del126 p.Glu709_Lys750del42 Parent #2 - VUS g.? - - - ATM_000009 exon 16 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 16 c.? r.2125_2250del126 p.Glu709_Lys750del42 Parent #1 - VUS g.? - - - ATM_000009 exon 16 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Ejima & Sasaki 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 17 c.? r.2250_2251ins9 p.? Parent #1 - VUS g.? - inserted nucleotides not specified - ATM_000455 similar to ATM_00130 - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 17 c.? r.2250_2251ins9 p.? Parent #2 - VUS g.? - inserted nucleotides not specified - ATM_000455 similar to ATM_00130 - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 17 c.? r.2250_2251ins9 p.? Parent #2 - VUS g.? - inserted nucleotides not specified - ATM_000455 similar to ATM_00130 - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 17 c.? r.2251_2376del p.Ser751_Lys792del42 Parent #1 - VUS g.? - - - ATM_000456 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Wright 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 17 c.? r.2251_2376del p.Ser751_Lys792del42 Parent #1 - VUS g.? - - - ATM_000456 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Wright 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 17 c.? r.2250_2251ins9 p.? Unknown - VUS g.? - inserted nucleotides not specified - ATM_000455 similar to ATM_00130 - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
+/. 18 c.? r.2377_2466del p.Lys793_Leu822del30 Both (homozygous) - pathogenic g.? - 2377del90 - ATM_000457 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 18 c.? r.2377_2466del p.Lys793_Leu822del30 Parent #2 - VUS g.? - - - ATM_000457 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 6 c.? r.186_331del p.Phe63fs Parent #2 - VUS g.? - - - ATM_000009 exon 6 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 19 c.? r.2467_2838del p.Ala823_Met946del124 Parent #1 - VUS g.? - - - ATM_000458 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 19 c.? r.2467_2838del p.Ala823_Met946del124 Parent #2 - VUS g.? - - - ATM_000458 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 20 c.? r.2639_2838del p.Gly880fs Parent #2 - VUS g.? - - - ATM_000459 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Byrd 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 20 c.? r.2639_2838del p.Gly880fs Parent #2 - VUS g.? - - - ATM_000459 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Byrd 1996; PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 20 c.? r.2639_2838del p.Gly880fs Parent #1 - VUS g.? - - - ATM_000459 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Byrd 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 20 c.? r.2639_2838del p.Gly880fs Parent #1 - VUS g.? - - - ATM_000459 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Byrd 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 21 c.? r.2839_2921del p.Tyr947fs Parent #1 - VUS g.? - - - ATM_000151 exon 21 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 21 c.? r.2839_2921del p.Tyr947fs Parent #2 - VUS g.? - - - ATM_000151 exon 21 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 21 c.? r.2839_2921del p.Tyr947fs Parent #1 - VUS g.? - - - ATM_000151 exon 21 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 21 c.? r.2839_2921del p.Tyr947fs Parent #2 - VUS g.? - - - ATM_000151 exon 21 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 21 c.? r.2839_2921del p.Tyr947fs Parent #2 - VUS g.? - - - ATM_000151 exon 21 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 23 c.? r.3078_3284del p.Tyr1026* Parent #1 - VUS g.? - - - ATM_000461 exon 23 and 24 skipped - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Wright 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 26 c.? r.3404_3576del174 p.Ser1135_Lys1192del58 Parent #1 - VUS g.? - - - ATM_000475 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Baumer 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 26 c.? r.3404_3576del174 p.Ser1135_Lys1192del58 Parent #2 - VUS g.? - - - ATM_000475 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Baumer 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 26 c.? r.3404_3576del174 p.Ser1135_Lys1192del58 Parent #1 - VUS g.? - - - ATM_000475 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 30 c.? r.4110_4236del127 p.Asp1371Ilefs*38 Parent #1 - VUS g.? - - - ATM_000477 exon 30 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 30 c.? r.4110_4236del127 p.Asp1371Ilefs*38 Parent #2 - VUS g.? - - - ATM_000477 exon 30 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 30 c.? r.4110_4162del53 p.? Unknown - VUS g.? - - - ATM_000386 aberrant splicing - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Birrell 2005 - - - - - - 0 - - 1 Patrick Concannon
?/. 33 c.? r.4612_4776del165 p.Val1538_Glu1592del55 Parent #1 - VUS g.? - - - ATM_000186 exon 33 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 33 c.? r.4612_4776del165 p.Val1538_Glu1592del55 Parent #2 - VUS g.? - - - ATM_000186 exon 33 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 34 c.? r.4777_6006del p.Glu1593_Gln2002del Parent #1 - VUS g.? - - - ATM_000192 Exons 34-42 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 34 c.? r.4777_6006del p.Glu1593_Gln2002del Parent #2 - VUS g.? - - - ATM_000192 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 34 c.? r.4777_5674del p.Glu1593Serfs*25 Parent #2 - VUS g.? - - - ATM_000191 Exons 34-39 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Watters 1997 - - - - - - 0 - - 1 Patrick Concannon
?/. 34 c.? r.4777_5005del p.Glu1593Argfs*13 Parent #1 - VUS g.? - - - ATM_000190 Exons 34-35 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Telatar 1996; PubMed: Mitui 2005 - - - - - - 0 - - 1 Patrick Concannon
?/. 37 c.? r.5178_5319del142 p.Val1727Phefs*2 Parent #1 - VUS g.? - - - ATM_000195 exon 37 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Telatar 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 8 c.? r.497_8010del7514 p.Glu166fs Parent #1 - VUS g.? - - - ATM_000009 genomic deletion removing exons 8-56 - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 8 c.? r.497_8010del7514 p.Glu166fs Parent #2 - VUS g.? - - - ATM_000009 genomic deletion removing exons 8-56 - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 38 c.? r.5320_5674del p.Phe1774Serfs*25 Parent #2 - VUS g.? - - - ATM_000203 Exons 38-39 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 38 c.? r.5320_5326del7 p.Phe1774Lysfs*17 Parent #2 - VUS g.? - - - ATM_000202 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 38 c.? r.5319_5320ins9 p.Lys1773_Phe1774 insValSer* Parent #1 - VUS g.? - - - ATM_000201 mutation not specified but similar in effect to ATM00065 - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 8 c.? r.497_662del p.Glu166fs Parent #2 - VUS g.? - - - ATM_000021 exon 8 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Byrd 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 40 c.? r.5675_5762del88 p.Glu1892Aspfs*16 Parent #2 - VUS g.? - - - ATM_000501 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Wright 1996; PubMed: Hacia 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 43 c.? r.6007_6095del89 p.Asp2003Thrfs*5 Parent #1 - VUS g.? - - - ATM_000228 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Telatar 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 45 c.? r.6199_6347del149 p.Ala2067Glnfs*10 Parent #1 - VUS g.? - - - ATM_000242 Exon 45 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 45 c.? r.6199_6347del149 p.Ala2067Glnfs*10 Parent #2 - VUS g.? - - - ATM_000242 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 46 c.? r.6348_6452del105 p.Ser2116_Ala2150del Parent #1 - VUS g.? - - - ATM_000246 Exon 47 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 46 c.? r.6348_6452del105 p.Ser2116_Ala2150del Parent #2 - VUS g.? - - - ATM_000246 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 48 c.? r.5675_5762del p.Glu1892Aspfs*16 Parent #2 - VUS g.? - - - ATM_000216 Exon 40 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Wright 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 50 c.? r.6976_7089del114 p.Asn2326_Lys2363del Parent #1 - VUS g.? - - - ATM_000261 Exon 50 spliced out - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Wright 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del Parent #2 - VUS g.? - - - ATM_000009 exon 54 deletion in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del Parent #1 - VUS g.? - - - ATM_000009 exon 54 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Wright 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del Parent #2 - VUS g.? - - - ATM_000009 exon 54 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del Parent #1 - VUS g.? - - - ATM_000009 exon 54 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Telatar 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del Parent #1 - VUS g.? - - - ATM_000009 exon 54 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b - - - - - - 0 - - 1 Patrick Concannon
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del Parent #1 - VUS g.? - - - ATM_000009 exon 54 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Baumer 1996 - - - - - - 0 - - 1 Patrick Concannon
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del Unknown - VUS g.? - - - ATM_000009 exon 54 deleted in cDNA - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.108098352A>G g.108227625A>G - - ATM_001233 - Fiévet 2019, submitted - - Germline - - - 0 - DNA SEQ - - AT AT04 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - 0 - - 1 Alice Fiévet
?/. - c.1A>G r.? p.? Parent #1 - NA g.108098352A>G - chr11_108098352_A_G - ATM_001233 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.1A>G r.? p.? Parent #1 - NA g.108098352A>G - chr11_108098352_A_G - ATM_001233 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 4 c.2T>C r.(?) p.0? Parent #2 - pathogenic g.108098353T>C g.108227626T>C (Met1Thr) - ATM_000002 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
+/. 4 c.2T>C r.(?) p.0? Parent #2 - pathogenic g.108098353T>C g.108227626T>C (Met1Thr) - ATM_000002 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Byrd 1996; PubMed: Stankovic 1998 - - - - - - 0 - - 1 Patrick Concannon
+/. 4 c.2T>C r.(?) p.0? Parent #1 - pathogenic g.108098353T>C g.108227626T>C (Met1Thr) - ATM_000002 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Gilad 1996b Initiation codon changed to Thr - - - - - 0 - - 1 Patrick Concannon
+/. 4 c.2T>C r.(?) p.0? Parent #1 - pathogenic g.108098353T>C g.108227626T>C (Met1Thr) - ATM_000002 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Buzin 2003 Initiation codon changed to Thr - - - - - 0 - - 1 Patrick Concannon
?/. - c.2T>C r.? p.? Parent #1 - NA g.108098353T>C - chr11_108098353_T_C - ATM_000002 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
+/. 4 c.3G>A r.(?) p.0? Parent #1 - pathogenic g.108098354G>A g.108227627G>A (Met1Ile) - ATM_000414 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Teraoka 1999; PubMed: Buzin 2003 - - - - - - 0 - - 1 Patrick Concannon
+/. 4 c.3G>A r.(?) p.0? Parent #2 - pathogenic g.108098354G>A g.108227627G>A (Met1Ile) - ATM_000414 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Buzin 2003 Initiation codon changed to Ile - - - - - 0 - - 1 Patrick Concannon
?/. - c.3G>A r.? p.? Parent #1 - NA g.108098354G>A - chr11_108098354_G_A - ATM_000414 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.3G>A r.? p.? Parent #1 - NA g.108098354G>A - chr11_108098354_G_A - ATM_000414 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 2 c.13C>A r.(?) p.(Leu5Ile) Parent #1 - VUS g.108098364C>A - - - ATM_000798 not in 7051 cases breast cancer Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.13C>G r.(?) p.(Leu5Val) Parent #1 - NA g.108098364C>G - chr11_108098364_C_G - ATM_001712 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 2 c.22C>T r.(?) p.(=) Parent #1 - 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 - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.25C>A r.(?) p.(Leu9Ile) Parent #1 - NA g.108098376C>A - chr11_108098376_C_A - ATM_001713 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 4 c.27del r.(?) p.(Ile10Serfs*6) Parent #2 - VUS g.108098378del g.108227651del 27_27delT - ATM_000003 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Sandoval 1999 - - - - - - 0 - - 1 Patrick Concannon
?/. 4 c.27del r.(?) p.(Ile10Serfs*6) Parent #1 - VUS g.108098378del g.108227651del 27_27delT - ATM_000003 - - - - Germline - - - 0 - DNA SEQ - - AT - PubMed: Sandoval 1999 - - - - - - 0 - - 1 Patrick Concannon
?/. 2 c.37C>T r.(?) p.(Arg13Cys) Parent #1 - VUS g.108098388C>T g.108227661C>T - - ATM_000800 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs141586345 Germline - 2/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 2 Yukihide Momozawa
?/. - c.37C>T r.(?) p.(Arg13Cys) Parent #1 - VUS g.108098388C>T g.108227661C>T - - ATM_000800 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs141586345 Germline - 1/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
-?/. - c.37C>T r.(?) p.(Arg13Cys) Unknown - likely benign g.108098388C>T - ATM(NM_000051.3):c.37C>T (p.R13C) - ATM_000800 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37C>T r.(?) p.(Arg13Cys) Parent #1 - NA g.108098388C>T - chr11_108098388_C_T - ATM_000800 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.37C>T r.(?) p.(Arg13Cys) Parent #1 - NA g.108098388C>T - chr11_108098388_C_T - ATM_000800 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.38G>A r.(?) p.(Arg13His) Parent #1 - NA g.108098389G>A - chr11_108098389_G_A - ATM_001714 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.38G>A r.(?) p.(Arg13His) Parent #1 - NA g.108098389G>A - chr11_108098389_G_A - ATM_001714 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.43del r.(?) p.(Leu15*) Parent #1 - NA g.108098394del - chr11_108098393_AC_A - ATM_001715 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.43del r.(?) p.(Leu15*) Parent #1 - NA g.108098394del - chr11_108098393_AC_A - ATM_001715 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.49C>A r.(?) p.(His17Asn) Parent #1 - NA g.108098400C>A - chr11_108098400_C_A - ATM_001716 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
?/. - c.49C>A r.(?) p.(His17Asn) Parent #1 - NA g.108098400C>A - chr11_108098400_C_A - ATM_001716 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
?/. - c.50A>G r.(?) p.(His17Arg) Parent #1 - NA g.108098401A>G - chr11_108098401_A_G - ATM_001717 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
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