ALK c.3535A>G ;(p.I1179V)

Variant ID: 2-29443682-T-C

NM_004304.4(ALK):c.3535A>G;(p.I1179V)

This variant was identified in 4 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: ALK: I1179V; rs1198494888
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Resistance to Targeted Agents Used to Treat Paediatric ALK-Positive ALCL.

Cancers
Hare, Lucy L; Burke, G A Amos GAA; Turner, Suzanne D SD
Publication Date: 2021-11-29

Variant appearance in text: ALK: I1179V
PubMed Link: 34885113
Variant Present in the following documents:
  • cancers-13-06003.pdf
View BVdb publication page



Resistance to Targeted Agents Used to Treat Paediatric ALK-Positive ALCL.

Cancers
Hare, Lucy L; Burke, G A Amos GAA; Turner, Suzanne D SD
Publication Date: 2021-11-29

Variant appearance in text: ALK: I1179V
PubMed Link: 34885113
Variant Present in the following documents:
  • cancers-13-06003.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: I1179V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: ALK: I1179V
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page