ERBB2 c.2095C>A ;(p.P699T)

Variant ID: 17-37879800-C-A

NM_004448.2(ERBB2):c.2095C>A;(p.P699T)

This variant was identified in 2 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: ERBB2: P699T; rs1192572638
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: ERBB2: 2095C>A
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 8
View BVdb publication page