Full data view for gene ATM

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

58 entries on 1 page. Showing entries 1 - 58.
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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     
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Broeks 1998 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Telatar 1996; PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Broeks 1998 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 reduced ATM protein - - - Germline - - - - - DNA SEQ - - AT - PubMed: Lakin 1996; PubMed: Byrd 1996 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Wright 1996 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Wright 1996 - - - - - - - - - 1 Patrick Concannon
+/. 10 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Both (homozygous) - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del 1563delAG - ATM_000086 - PubMed: Gilad 1996, PubMed: Hacia 1998 - - Germline - - - - - DNA SEQ - - AT AT8LA PubMed: Gilad 1996, PubMed: Hacia 1998 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Birrell 2005 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2003 - - - Brazil - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Stankovic 1998 - - - - - - - - - 1 Patrick Concannon
+?/. 10 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - likely pathogenic g.108121756_108121757del g.108251029_108251030del 1561delAG - ATM_000086 - PubMed: Sandoval 1999 - - Germline - - - - - DNA SEQ - - AT Aa029 PubMed: Sandoval 1999 - - - - - - - - - 1 Patrick Concannon
?/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - VUS g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Watters 1997 - - - - - - - - - 1 Patrick Concannon
+/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - pathogenic g.108121756_108121757del g.108251029_108251030del 1563_1564delAG - ATM_000086 - PubMed: Verhagen 2007, PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Pat5;Pat1 PubMed: Verhagen 2007, PubMed: Verhagen 2012 - M - Netherlands - - - - - 1 Frans BL Hogervorst
+/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - pathogenic g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 unknown variant 2nd chromosome PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Pat4 PubMed: Verhagen 2012 - M - Netherlands - - - - - 1 Frans BL Hogervorst
+/. 12 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del 1564_1565delGA - ATM_000086 - PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT FamPat5I PubMed: Verhagen 2012 - F - Netherlands - - - - - 2 Frans BL Hogervorst
+/. 10 c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del 1563_1564delAG - ATM_000086 - PubMed: Demuth 2011 - - Germline - - - - - DNA SEQ - - AT 14587 PubMed: Demuth 2011 family, 2 affected M - Hungary - - - - - 2 Patrick Concannon
+/. - c.1564_1565del r.(?) p.(Glu522Ilefs*43) Unknown - pathogenic g.108121756_108121757del g.108251029_108251030del 1562_1563delAG - ATM_000086 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.1564_1565del r.(?) p.(Glu522IlefsTer43) Unknown - pathogenic g.108121756_108121757del g.108251029_108251030del ATM(NM_000051.3):c.1564_1565del (p.(Glu522Ilefs*43)), ATM(NM_000051.3):c.1564_1565delGA (p.E522Ifs*43), ATM(NM_000051.3):c.1564_1565delGA (p.Glu52...) - ATM_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1564_1565del r.(?) p.(Glu522IlefsTer43) Unknown - pathogenic g.108121756_108121757del g.108251029_108251030del ATM(NM_000051.3):c.1564_1565del (p.(Glu522Ilefs*43)), ATM(NM_000051.3):c.1564_1565delGA (p.E522Ifs*43), ATM(NM_000051.3):c.1564_1565delGA (p.Glu52...) - ATM_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1564_1565del r.(?) p.(Glu522IlefsTer43) Unknown - pathogenic g.108121756_108121757del g.108251029_108251030del ATM(NM_000051.3):c.1564_1565del (p.(Glu522Ilefs*43)), ATM(NM_000051.3):c.1564_1565delGA (p.E522Ifs*43), ATM(NM_000051.3):c.1564_1565delGA (p.Glu52...) - ATM_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - NA g.108121756_108121757del - chr11_108121752_CAG_C - ATM_000086 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 - 33/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 33 BRIDGES consortium
?/. - c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - NA g.108121756_108121757del - chr11_108121752_CAG_C - ATM_000086 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 - 9/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 9 BRIDGES consortium
+/. 10 c.1564_1565del r.(?) p.(Glu522IlefsTer43) Unknown ACMG pathogenic g.108121756_108121757del g.108251029_108251030del - - ATM_000086 - - - - Germline - - - - - DNA SEQ-NG blood - cancer, pancreatic - - - M - Belgium - - - - - 1 Kathleen Claes
+/. - c.1564_1565del r.(?) p.(Glu522IlefsTer43) Unknown - pathogenic g.108121756_108121757del - ATM(NM_000051.3):c.1564_1565del (p.(Glu522Ilefs*43)), ATM(NM_000051.3):c.1564_1565delGA (p.E522Ifs*43), ATM(NM_000051.3):c.1564_1565delGA (p.Glu52...) - ATM_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1564_1565del r.(?) p.(Glu522IlefsTer43) Unknown - pathogenic g.108121756_108121757del - ATM(NM_000051.3):c.1564_1565del (p.(Glu522Ilefs*43)), ATM(NM_000051.3):c.1564_1565delGA (p.E522Ifs*43), ATM(NM_000051.3):c.1564_1565delGA (p.Glu52...) - ATM_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1564_1565del r.(?) p.(Glu522IlefsTer43) Unknown - pathogenic g.108121756_108121757del g.108251029_108251030del p.Glu522IlefsTer43 - ATM_000086 secondary finding PubMed: Schuermans 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Schuermans 2022 secondary finding analysis 329 adult patients suffering from undiagnosed rare disease - - Belgium - - - - - 1 Johan den Dunnen
+/. - c.1564_1565del r.(?) p.(Glu522IlefsTer43) Unknown - pathogenic g.108121756_108121757del - ATM(NM_000051.3):c.1564_1565del (p.(Glu522Ilefs*43)), ATM(NM_000051.3):c.1564_1565delGA (p.E522Ifs*43), ATM(NM_000051.3):c.1564_1565delGA (p.Glu52...) - ATM_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1564_1565del r.(?) p.(Glu522IlefsTer43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del 1565_1565delAG - ATM_000086 - PubMed: Verhagen 2009, PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Patc6;Pat27 PubMed: Verhagen 2009, PubMed: Verhagen 2012 - M - Germany;Korea - - - - - 1 Johan den Dunnen
+/. - c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #2 - pathogenic (recessive) g.108121756_108121757del - 1564_1565delAG - ATM_000086 - PubMed: Van Os 2017, PubMed: Van Os 2019 - - Germline - - - - - DNA SEQ - - AT Patv9;Pat36;Pat41;55D2 PubMed: Verhagen 2009, PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 - F - Netherlands - - - - - 1 Frans BL Hogervorst
+/. - c.1564_1565del r.(?) p.(Glu522Ilefs*43) Parent #1 - pathogenic (recessive) g.108121756_108121757del - 1563_1564delAG - ATM_000086 - PubMed: Demuth 2011 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - AT 14587X PubMed: Demuth 2011 relative - - Hungary - - - - - 1 Johan den Dunnen
+/. 10 c.1564_1565del r.(?) p.(Glu522IlefsTer43) Both (homozygous) - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del c.1564_1565delGA - ATM_000086 - PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-38374A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 10 c.1564_1565del r.(?) p.(Glu522IlefsTer43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del c.1564_1565delGA - ATM_000086 no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-32886A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 10 c.1564_1565del r.(?) p.(Glu522IlefsTer43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del c.1564_1565delGA - ATM_000086 - PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-35448A002 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 10 c.1564_1565del r.(?) p.(Glu522IlefsTer43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del c.1564_1565delGA - ATM_000086 - PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-38360A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 10 c.1564_1565del r.(?) p.(Glu522IlefsTer43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del c.1564_1565delGA - ATM_000086 no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-38556A004 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 10 c.1564_1565del r.(?) p.(Glu522IlefsTer43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del c.1564_1565delGA - ATM_000086 - PubMed: Micol 2011 - - Germline - - - - - DNA RT-PCR, SEQ - - AT 01-38675A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 10 c.1564_1565del r.(?) p.(Glu522IlefsTer43) Parent #1 - pathogenic (recessive) g.108121756_108121757del g.108251029_108251030del c.1564_1565delGA - ATM_000086 - PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-39354A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
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