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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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Gender     

Consanguinity     

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Age at death     

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Data_av     

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Owner     
?/. 55 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #1 - VUS g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: van Belzen 1998 - - - - - - - - - 1 Patrick Concannon
?/. 55 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #2 - VUS g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: van Belzen 1998 - - - - - - - - - 1 Patrick Concannon
+?/. 53 c.7875_7876delinsGC r.7875_7876delinsgc p.Asp2625_Ala2626delinsGluPro Maternal (confirmed) - likely pathogenic g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - PubMed: Laake 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT NOAT4 PubMed: Laake 1998, PubMed: Laake 2000 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Norway - - - - - 2 Patrick Concannon
?/. 55 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #1 - VUS g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 55 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #1 - VUS g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
+/. 53 c.7875_7876delinsGC r.7875_7876delinsgc p.Asp2625_Ala2626delinsGluPro Parent #2 - pathogenic (recessive) g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - PubMed: Dork 2004, PubMed: Fiévet 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT AT35 PubMed: Dork 2004, PubMed: Fiévet 2019, Journal: Fiévet 2019 - M - Germany - - - - - 1 Patrick Concannon
+?/. 55 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #2 - likely pathogenic (recessive) g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 Protein present by Western blot but no detectable kinase activity PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Pat9 PubMed: Verhagen 2012 - M - Netherlands - - - - - 1 Frans BL Hogervorst
+?/. 53 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Both (homozygous) - likely pathogenic (recessive) g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 Protein present by Western blot but no detectable kinase activity PubMed: Van Belzen 1998, PubMed: Verhagen 2007, PubMed: Verhagen 2012 - - Germline yes - - - - DNA SEQ - - AT family;Pat1/3;Pat15I/II PubMed: Van Belzen 1998, PubMed: Verhagen 2007, PubMed: Verhagen 2012 - F;M - Netherlands - - - - - 2 Frans BL Hogervorst
+?/. 55 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Both (homozygous) - likely pathogenic (recessive) g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 Protein present by Western blot but no detectable kinase activity PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Pat12;Pat14I PubMed: Verhagen 2007, PubMed: Verhagen 2012 family, 2 affected (F, M) F - Netherlands - - - - - 2 Frans BL Hogervorst
+?/. 55 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #1 - likely pathogenic (recessive) g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 Protein present by Western blot but no detectable kinase activity PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Patc5;Pat16 PubMed: Verhagen 2009, PubMed: Verhagen 2012 - F - Netherlands - - - - - 1 Frans BL Hogervorst
+/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Unknown - pathogenic g.108203575_108203576delinsGC g.108332848_108332849delinsGC ATM(NM_000051.3):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro, p.D2625_A2626delinsEP) - ATM_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #1 - NA g.108203575_108203576delinsGC - chr11_108203575_TG_GC - ATM_000079 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 - 8/60466 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 - 8 BRIDGES consortium
?/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #1 - NA g.108203575_108203576delinsGC - chr11_108203575_TG_GC - ATM_000079 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 - 7/53461 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 - 7 BRIDGES consortium
+/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Unknown - pathogenic g.108203575_108203576delinsGC - ATM(NM_000051.3):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro, p.D2625_A2626delinsEP) - ATM_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Unknown - pathogenic g.108203575_108203576delinsGC - ATM(NM_000051.3):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro, p.D2625_A2626delinsEP) - ATM_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Both (homozygous) - likely pathogenic g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - PubMed: Verhagen 2007 - - Germline - - - - - DNA SEQ - - AT Pat14II PubMed: Verhagen 2007, PubMed: Verhagen 2012 relative M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Both (homozygous) - pathogenic (recessive) g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - PubMed: Verhagen 2009 - - Germline - - - - - DNA SEQ - - AT Patc1 PubMed: Verhagen 2009 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #2 - pathogenic (recessive) g.108203575_108203576delinsGC g.108332848_108332849delinsGC 7875_7876delTGinsGC - ATM_000079 - PubMed: Verhagen 2009 - - Germline - - - - - DNA SEQ - - AT Patv13;Pat24 PubMed: Verhagen 2009, PubMed: Verhagen 2012 - F - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #2 - likely pathogenic (recessive) g.108203575_108203576delinsGC - 7875_7876delTGinsGC - ATM_000079 - PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Pat29 PubMed: Verhagen 2012 - F - Netherlands - - - - - 1 Frans BL Hogervorst
+?/. 55 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #2 - likely pathogenic (recessive) g.108203575_108203576delinsGC - 7875_7876delTGinsGC - ATM_000079 - PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Pat25 PubMed: Verhagen 2012 - F - Netherlands - - - - - 1 Frans BL Hogervorst
+?/. 53 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #1 - likely pathogenic (recessive) g.108203575T>C g.108332848T>C c.7875_7876TG>CG - ATM_000079 variant causes reduced expression or reduced protein activity; no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-38549A012 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+?/. 53 c.7875_7876delinsGC r.(?) p.(Asp2625_Ala2626delinsGluPro) Parent #1 - likely pathogenic (recessive) g.108203575T>C g.108332848T>C c.7875_7876TG>CG - ATM_000079 variant causes reduced expression or reduced protein activity; no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-47586A001 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
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