Full data view for gene ATM

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

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Data_av     

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Panel size     

Owner     
?/. 60 c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - VUS g.108216545C>T g.108345818C>T - - ATM_000309 reduced ATM protein - - - Germline - - - - - DNA SEQ - - AT - PubMed: Becker-Catania 2000 - - - - - - - - - 1 Patrick Concannon
?/. 60 c.8494C>T r.(?) p.(Arg2832Cys) Parent #2 - VUS g.108216545C>T g.108345818C>T - - ATM_000309 reduced ATM protein - - - Germline - - - - - DNA SEQ - - AT - PubMed: Becker-Catania 2000 - - - - - - - - - 1 Patrick Concannon
?/. 60 c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - VUS g.108216545C>T g.108345818C>T - - ATM_000309 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Becker-Catania 2000 - - - - - - - - - 1 Patrick Concannon
?/. 60 c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - VUS g.108216545C>T g.108345818C>T - - ATM_000309 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 60 c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - VUS g.108216545C>T g.108345818C>T - - ATM_000309 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 60 c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - VUS g.108216545C>T g.108345818C>T - - ATM_000309 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 60 c.8494C>T r.(?) p.(Arg2832Cys) Unknown - VUS g.108216545C>T g.108345818C>T - - ATM_000309 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Telatar 1998 - - - - - - - - - 1 Patrick Concannon
+/. 58 c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - pathogenic g.108216545C>T g.108345818C>T - - ATM_000309 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587779872 Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
+/. - c.8494C>T r.(?) p.(Arg2832Cys) Unknown - pathogenic g.108216545C>T g.108345818C>T - - ATM_000309 - Fiévet 2019, submitted - - Germline - - - - - DNA SEQ-NG - - AT AT03 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - - - - 1 Alice Fiévet
+/. - c.8494C>T r.(?) p.(Arg2832Cys) Unknown - pathogenic g.108216545C>T g.108345818C>T ATM(NM_000051.3):c.8494C>T (p.R2832C), ATM(NM_000051.4):c.8494C>T (p.R2832C) - ATM_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - NA g.108216545C>T - chr11_108216545_C_T - ATM_000309 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 - 11/60466 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 - 11 BRIDGES consortium
?/. - c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - NA g.108216545C>T - chr11_108216545_C_T - ATM_000309 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 - - - 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 - 2 BRIDGES consortium
+/. 58 c.8494C>T r.(?) p.(Arg2832Cys) Unknown ACMG pathogenic g.108216545C>T g.108345818C>T - - ATM_000309 - - - - Germline - - - - - DNA SEQ-NG blood - cancer, pancreatic - - - M - Belgium - - - - - 1 Kathleen Claes
+/. - c.8494C>T r.(?) p.(Arg2832Cys) Unknown - pathogenic g.108216545C>T - ATM(NM_000051.3):c.8494C>T (p.R2832C), ATM(NM_000051.4):c.8494C>T (p.R2832C) - ATM_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8494C>T r.(?) p.(Arg2832Cys) Unknown - pathogenic g.108216545C>T - ATM(NM_000051.3):c.8494C>T (p.R2832C), ATM(NM_000051.4):c.8494C>T (p.R2832C) - ATM_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8494C>T r.(?) p.(Arg2832Cys) Unknown - pathogenic g.108216545C>T - ATM(NM_000051.3):c.8494C>T (p.R2832C), ATM(NM_000051.4):c.8494C>T (p.R2832C) - ATM_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8494C>T r.(?) p.(Arg2832Cys) Unknown - pathogenic g.108216545C>T - ATM(NM_000051.3):c.8494C>T (p.R2832C), ATM(NM_000051.4):c.8494C>T (p.R2832C) - ATM_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 58 c.8494C>T r.(?) p.(Arg2832Cys) Parent #1 - likely pathogenic (recessive) g.108216545C>T g.108345818C>T - - ATM_000309 variant causes reduced expression or reduced protein activity; no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-41811A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 58 c.8494C>T r.(?) p.(Arg2832Cys) Parent #2 - likely pathogenic (recessive) g.108216545C>T g.108345818C>T - - ATM_000309 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-35007A002 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 58 c.8494C>T r.(?) p.(Arg2832Cys) Parent #2 - likely pathogenic (recessive) g.108216545C>T g.108345818C>T - - ATM_000309 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-19901A007 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 58 c.8494C>T r.(?) p.(Arg2832Cys) Unknown - likely pathogenic (recessive) g.108216545C>T g.108345818C>T - - ATM_000309 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA RT-PCR, SEQ - - AT 01-49602A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.8494C>T r.(?) p.(Arg2832Cys) Unknown - likely pathogenic g.108216545C>T - ATM(NM_000051.3):c.8494C>T (p.R2832C), ATM(NM_000051.4):c.8494C>T (p.R2832C) - ATM_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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