Full data view for gene ATM

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

36 entries on 1 page. Showing entries 1 - 36.
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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     
+?/. 57 c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - likely pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 no variant 2nd chromosome PubMed: Verhagen 2012 - - 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
+?/. 57 c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - likely pathogenic g.108205832T>C g.108335105T>C - - ATM_000473 no variant 2nd chromosome PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Patv10;Pat37;Pat40;55D1 PubMed: Verhagen 2009, PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 - F - Netherlands - 47y - - - 1 Frans BL Hogervorst
+?/. 57 c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Demuth 2011 - - Germline - - - - - DNA SEQ - - AT 10504;55L1a PubMed: Demuth 2011, PubMed: Van Os 2019 family, 2 affected (2M) M - Poland - - - - - 2 Patrick Concannon
+?/. 57 c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 ATM protein < 50% of control PubMed: Demuth 2011, PubMed: Van Os 2019 - - Germline - - - - - DNA SEQ - - AT 97P0625;55G2 PubMed: Demuth 2011, PubMed: Van Os 2019 - M - Germany - - - - - 1 Patrick Concannon
?/. 57 c.8147T>C r.(?) p.(Val2716Ala) Maternal (confirmed) - VUS g.108205832T>C g.108335105T>C - - ATM_000473 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Kuhm 2015 - F no Germany German - - - - 1 Patrick Concannon
+/. - c.8147T>C r.(?) p.(Val2716Ala) Unknown - pathogenic g.108205832T>C g.108335105T>C - - ATM_000473 - Fiévet 2019, submitted - - Germline - - - - - DNA SEQ - - AT AT04 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - - - - 1 Alice Fiévet
+/. - c.8147T>C r.(?) p.(Val2716Ala) Unknown - pathogenic g.108205832T>C g.108335105T>C - - ATM_000473 - Fiévet 2019, submitted - - Germline - - - - - DNA SEQ - - AT AT24 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - - - - 1 Alice Fiévet
+/. - c.8147T>C r.(?) p.(Val2716Ala) Unknown - pathogenic g.108205832T>C g.108335105T>C - - ATM_000473 - Fiévet 2019, submitted - - Germline - - - - - DNA SEQ - - AT AT36 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - - - - 1 Alice Fiévet
+/. - c.8147T>C r.(?) p.(Val2716Ala) Unknown - pathogenic g.108205832T>C g.108335105T>C ATM(NM_000051.3):c.8147T>C (p.(Val2716Ala), p.Val2716Ala), ATM(NM_001351834.2):c.8147T>C (p.V2716A) - ATM_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8147T>C r.(?) p.(Val2716Ala) Unknown - pathogenic g.108205832T>C g.108335105T>C ATM(NM_000051.3):c.8147T>C (p.(Val2716Ala), p.Val2716Ala), ATM(NM_001351834.2):c.8147T>C (p.V2716A) - ATM_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8147T>C r.(?) p.(Val2716Ala) Unknown - pathogenic g.108205832T>C - ATM(NM_000051.3):c.8147T>C (p.(Val2716Ala), p.Val2716Ala), ATM(NM_001351834.2):c.8147T>C (p.V2716A) - ATM_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - NA g.108205832T>C - chr11_108205832_T_C - ATM_000473 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 - 16/60466 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 - 16 BRIDGES consortium
?/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - NA g.108205832T>C - chr11_108205832_T_C - ATM_000473 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 - 6/53461 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 - 6 BRIDGES consortium
+/. - c.8147T>C r.(?) p.(Val2716Ala) Unknown - pathogenic g.108205832T>C - ATM(NM_000051.3):c.8147T>C (p.(Val2716Ala), p.Val2716Ala), ATM(NM_001351834.2):c.8147T>C (p.V2716A) - ATM_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Hiel 2006, PubMed: Verhagen 2009 - - Germline - - - - - DNA SEQ - - AT FamPatB1;v12;Pat20;Pat46;55D5 PubMed: Hiel 2006, PubMed: Verhagen 2009, PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 - F - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C - - - ATM_000473 - PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Patv11;Pat26;Pat42;55D3 PubMed: Verhagen 2009, PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 - F - Netherlands - - - - - 1 Frans BL Hogervorst
+?/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C - - - ATM_000473 - PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Patv8;Pat22;Pat43;55D4 PubMed: Verhagen 2009, PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 - F - Netherlands - - - - - 1 Frans BL Hogervorst
+?/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C - - - ATM_000473 - PubMed: Demuth 2011, PubMed: Van Os 2019 - - Germline yes - - - - DNA SEQ - - AT 10505;55L1b PubMed: Demuth 2011 sister F - Poland - 07y - - - 1 Johan den Dunnen
+?/. 55 c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline yes - - - - DNA SEQ - - AT 01-43218A001;55.F3a PubMed: Micol 2011, PubMed: van Os 2019 family, 2 affected M - France - - - - - 2 Johan den Dunnen
+?/. 55 c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-39088A001;55.F1 PubMed: Micol 2011, PubMed: van Os 2019 - F - France - - - - - 1 Johan den Dunnen
+?/. 55 c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA SEQ - - AT 01-39270A001;55.F2 PubMed: Micol 2011, PubMed: van Os 2019 - M - France - - - - - 1 Johan den Dunnen
+/. 55 c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - likely pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: van Os 2019 - - Germline yes - - - - DNA SEQ - - AT 55.F3b PubMed: van Os 2019 male relative M - France - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ - - AT Pat6;55.F4 PubMed: Meneret 2014, PubMed: van Os 2019 - F - France - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ - - AT Pat8 PubMed: Meneret 2014 - - - France - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ - - AT Pat9 PubMed: Meneret 2014 - - - France - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ - - AT Pat10 PubMed: Meneret 2014 - - - France - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #2 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Meneret 2014 - - Germline - - - - - DNA SEQ - - AT Pat11 PubMed: Meneret 2014 - - - France - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Maternal (confirmed) - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Kuhm 2015 - - Germline - - - - - DNA SEQ - - AT FamPatIII4:55.L2 PubMed: Kuhm 2015, PubMed: van Os 2019 3-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Paternal (confirmed) - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Lohmann 2015 - - Germline yes - - - - DNA SEQ - - AT FamPatIII2;55.L3a PubMed: Lohmann 2015, PubMed: van Os 2019 3-generation family, 3 affected sibs (2F, M) F - Germany Turkey - - - - 3 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Paternal (confirmed) - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Lohmann 2015 - - Germline yes - - - - DNA SEQ - - AT FamPatIII5;55.L3c PubMed: Lohmann 2015, PubMed: van Os 2019 brother F - Germany Turkey - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Paternal (confirmed) - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: Lohmann 2015 - - Germline yes - - - - DNA SEQ - - AT FamPatIII3;55.L3b PubMed: Lohmann 2015, PubMed: van Os 2019 brother F - Germany Turkey - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Unknown - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 variant associates with milder phenotype (longer survival, later loss of ambulation, fewer telangiectasias, less likely development of cancer, respiratory disease or immunodeficiency) PubMed: van Os 2019 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT 55.G1 PubMed: van Os 2019 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT 55.F6a PubMed: van Os 2019 - M - France - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Parent #1 - pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT 55.F6b PubMed: van Os 2019 - F - France - - - - - 1 Johan den Dunnen
+/. - c.8147T>C r.(?) p.(Val2716Ala) Maternal (confirmed) ACMG pathogenic (recessive) g.108205832T>C g.108335105T>C - - ATM_000473 - - - - Germline - - - - - DNA SEQ-NG-I - WGS AT - Pending - F - France - - - - - 1 Camille Verebi
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