Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT p.Ala279Thr (p.A279T) ( ENST00000310581.10, ENST00000334602.10 )
TERT p.Ala279Thr (p.A279T) ( ENST00000310581.10, ENST00000334602.10 )
Source Database
ClinVar
Description
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND Malignant tumor of breast
ClinVar Allele ID
47731
ClinVar RefSeq Alternation Syntax
NM_198253.3:c.835G>A
ClinVar RefSeq Alternation Syntax
NR_149162.3:n.914G>A
ClinVar RefSeq Alternation Syntax
NR_149163.3:n.914G>A
ClinVar RefSeq Alternation Syntax
NM_001193376.3:c.835G>A
Clinical Significance Description
Benign
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001269369
Observed Origin Sample
germline
Drugs