Full data view for gene ATM

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

35 entries on 1 page. Showing entries 1 - 35.
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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     
+?/. 51i c.7630-2A>C r.[7630_7788del|0,6,7630_7640del|0.4] p.[Leu2544_Glu2596del,Leu2544Asnfs*23] Both (homozygous) - likely pathogenic g.108202604A>C g.108331877A>C - - ATM_000077 - PubMed: Sandoval 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT Ac049 PubMed: Sandoval 1999 - - - - - - - - - 1 Patrick Concannon
+?/. 51i c.7630-2A>C r.7630_7788del p.Leu2544_Glu2596del Maternal (confirmed) - likely pathogenic g.108202604A>C g.108331877A>C - - ATM_000077 - PubMed: Laake 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT DAAT21 PubMed: Laake 2000 - - - Denmark - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.7630_7788del p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 Exon 54 deletion - - - Germline - - - - - DNA SEQ - - AT - PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
+?/. 51i c.7630-2A>C r.[7630_7788del|0,6,7630_7640del|0.4] p.[Leu2544_Glu2596del,Leu2544Asnfs*23] Parent #2 - likely pathogenic g.108202604A>C g.108331877A>C - - ATM_000077 - PubMed: Sandoval 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT Aa002 PubMed: Sandoval 1999 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Telatar 1998 - - - Poland - - - - - 1 Patrick Concannon
+?/. 51i c.7630-2A>C r.[7630_7788del|0,6,7630_7640del|0.4] p.[Leu2544_Glu2596del,Leu2544Asnfs*23] Parent #1 - likely pathogenic g.108202604A>C g.108331877A>C - - ATM_000077 - PubMed: Sandoval 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT Aa051 PubMed: Sandoval 1999 - - - - - - - - - 1 Patrick Concannon
+?/. 51i c.7630-2A>C r.[7630_7788del|0,6,7630_7640del|0.4] p.[Leu2544_Glu2596del,Leu2544Asnfs*23] Parent #1 - likely pathogenic g.108202604A>C g.108331877A>C - - ATM_000077 - PubMed: Sandoval 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT Aa009 PubMed: Sandoval 1999 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Li and Swift 2000 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #2 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2003 - - - - Iberian - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Coutinho 2004 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 exon 54 spliced out - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #1 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 exon 54 spliced out - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #2 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.(7630_7788del) p.(Leu2544_Glu2596del) Parent #2 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Mitui 2005 - - - - - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.spl p.? Unknown - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Podralska 2014 - F - (Poland) - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.spl p.? Unknown - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Podralska 2014 - M ? (Poland) - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.spl p.(Leu2544_Glu2596del) Parent #2 - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Podralska 2014 - M - (Poland) - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.spl p.? Unknown - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Podralska 2014 - M ? (Poland) - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.spl p.? Unknown - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Podralska 2014 - M ? (Poland) - - - - - 1 Patrick Concannon
?/. 54 c.7630-2A>C r.spl p.? Unknown - VUS g.108202604A>C g.108331877A>C - - ATM_000077 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Podralska 2014 - M ? (Poland) - - - - - 1 Patrick Concannon
+/. - c.7630-2A>C r.spl? p.? Parent #1 - pathogenic g.108202604A>C g.108331877A>C - - ATM_000077 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587779866 Germline - 1/2758 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.7630-2A>C r.(?) p.(?) Unknown - pathogenic g.108202604A>C g.108331877A>C - - ATM_000077 Pritchard et al. 2016. N Engl J Med 375: 443; Susswein et al. 2016. Genet Med 18: 823 - - rs587779866 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.7630-2A>C r.spl? p.? Parent #1 - NA g.108202604A>C - chr11_108202604_A_C - ATM_000077 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 - 7/60466 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 - 7 BRIDGES consortium
?/. - c.7630-2A>C r.spl? p.? Parent #1 - NA g.108202604A>C - chr11_108202604_A_C - ATM_000077 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 - 4/53461 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 - 4 BRIDGES consortium
+?/. - c.7630-2A>C r.spl p.(?) Unknown - likely pathogenic g.108202604A>C g.108331877A>C NM_000051.3:c.7630-2A>C; - ATM_000077 - PubMed: Nair 2018 - rs587779866 Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing AT ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+/. - c.7630-2A>C r.spl? p.? Unknown - pathogenic g.108202604A>C - ATM(NM_000051.4):c.7630-2A>C - ATM_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 51i c.7630-2A>C r.7630_7640del p.Leu2544AsnfsTer23 Parent #1 - pathogenic (recessive) g.108202604A>C g.108331877A>C IVS53-2A>C(c.7630_7640del11) - ATM_000077 no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA RT-PCR, SEQ - - AT 01-38549A003 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 51i c.7630-2A>C r.7630_7640del p.Leu2544AsnfsTer23 Parent #1 - pathogenic (recessive) g.108202604A>C g.108331877A>C IVS53-2A>C(c.7630_7640del11) - ATM_000077 no variant 2nd chromosome PubMed: Micol 2011 - - Germline - - - - - DNA RT-PCR, SEQ - - AT 01-38668A004 PubMed: Micol 2011 - - - France - - - - - 1 Johan den Dunnen
+/. - c.7630-2A>C r.spl? p.? Unknown - pathogenic g.108202604A>C - ATM(NM_000051.4):c.7630-2A>C - ATM_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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