ATM c.7875T>G ;(p.D2625E)

Variant ID: 11-108203575-T-G

NM_000051.3(ATM):c.7875T>G;(p.D2625E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ATM: D2625E; rs1196903858
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc3.xlsx, sheet 1
View BVdb publication page



ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Cancers
Putti, Sabrina S; Giovinazzo, Alessandro A; Merolle, Matilde M; Falchetti, Maria Laura ML; Pellegrini, Manuela M
Publication Date: 2021-11-01

Variant appearance in text: ATM: D2625E
PubMed Link: 34771661
Variant Present in the following documents:
  • Main text
  • cancers-13-05498.pdf
View BVdb publication page



Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde
Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A
Publication Date: 2020-04

Variant appearance in text: ATM: Asp2625Glu
PubMed Link: 32322110
Variant Present in the following documents:
  • Main text
View BVdb publication page



The importance of phase information for human genomics.

Nature Reviews. Genetics
Tewhey, Ryan R; Bansal, Vikas V; Torkamani, Ali A; Topol, Eric J EJ; Schork, Nicholas J NJ
Publication Date: 2011-03

Variant appearance in text: ATM: D2625E
PubMed Link: 21301473
Variant Present in the following documents:
  • Main text
View BVdb publication page



A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.

Cancer Genetics And Cytogenetics
Howe, James R JR; Chinnathambi, Sathivel S; Calva, Daniel D; Bair, Jennifer J; Pechman, Brenda B; Salamon, Agnes A; Tam, Beatrix B; Simon, László L
Publication Date: 2008-02

Variant appearance in text: ATM: D2625E
PubMed Link: 18262054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular pathology of ataxia telangiectasia.

Journal Of Clinical Pathology
Taylor, A M R AM; Byrd, P J PJ
Publication Date: 2005-10

Variant appearance in text: ATM: D2625E
PubMed Link: 16189143
Variant Present in the following documents:
  • Main text
View BVdb publication page