ATM c.1595G>T ;(p.C532F)

Variant ID: 11-108121787-G-T

NM_000051.3(ATM):c.1595G>T;(p.C532F)

This variant was identified in 3 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: C532F; rs35963548
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dalmasso, B B; Pastorino, L L; Nathan, V V; Shah, N N NN; Palmer, J M JM; Howlie, M M; Johansson, P A PA; Freedman, N D ND; Carter, B D BD; Beane-Freeman, L L; Hicks, B B; Molven, A A; Helgadottir, H H; Sankar, A A; Tsao, H H; Stratigos, A J AJ; Helsing, P P; Van Doorn, R R; Gruis, N A NA; Visser, M M; Wadt, K A W KAW; Mann, G G; Holland, E A EA; Nagore, E E; Potrony, M M; Puig, S S; Menin, C C; Peris, K K; Fargnoli, M C MC; Calista, D D; Soufir, N N; Harland, M M; Bishop, T T; Kanetsky, P A PA; Elder, D E DE; Andreotti, V V; Vanni, I I; Bruno, W W; Höiom, V V; Tucker, M A MA; Yang, X R XR; Andresen, P A PA; Adams, D J DJ; Landi, M T MT; Hayward, N K NK; Goldstein, A M AM; Ghiorzo, P P; , ; ,
Publication Date: 2021-11

Variant appearance in text: rs35963548
PubMed Link: 34262154
Variant Present in the following documents:
  • 41436_2021_1240_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.

Scientific Reports
Dutil, Julie J; Teer, Jamie K JK; Golubeva, Volha V; Yoder, Sean S; Tong, Wei Lue WL; Arroyo, Nelly N; Karam, Rachid R; Echenique, Miguel M; Matta, Jaime L JL; Monteiro, Alvaro N AN
Publication Date: 2019-11-28

Variant appearance in text: rs35963548
PubMed Link: 31780696
Variant Present in the following documents:
  • Main text
View BVdb publication page