Annotation Detail

Information
Associated Genes
ERCC2
Associated Variants
ERCC2 p.Arg658Cys (p.R658C) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Arg658Cys (p.R658C) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
Associated Disease
ovarian cancer
Source Database
ClinVar
Description
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) AND Ovarian cancer
ClinVar Allele ID
31824
ClinVar RefSeq Alternation Syntax
NM_000400.4:c.1972C>T
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2022-01-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003153304
ClinVar Disease
Ovarian cancer
Observed Origin Sample
germline
Drugs