Annotation Detail

Information
Associated Genes
MET
Associated Variants
MET p.Thr1010Ile (p.T1010I) ( ENST00000318493.11, ENST00000397752.8 )
MET p.Thr1010Ile (p.T1010I) ( ENST00000318493.11, ENST00000397752.8 )
Associated Disease
renal cell carcinoma
Source Database
ClinVar
Description
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) AND Renal cell carcinoma
ClinVar Allele ID
50063
ClinVar RefSeq Alternation Syntax
NM_001324402.2:c.1685C>T
ClinVar RefSeq Alternation Syntax
NM_000245.4:c.2975C>T
ClinVar RefSeq Alternation Syntax
NM_001127500.3:c.3029C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-02-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001507182
ClinVar Disease
Renal cell carcinoma
Observed Origin Sample
germline
Drugs