Annotation Detail

Information
Associated Genes
GNAS
Associated Variants
GNAS p.Leu131= (p.L131=) ( ENST00000306090.12, ENST00000306120.4, ENST00000313949.11, ENST00000349036.9, ENST00000371075.7, ENST00000371098.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000423897.7, ENST00000453292.7, ENST00000462499.6, ENST00000467227.6, ENST00000472183.6, ENST00000482112.6, ENST00000491348.5, ENST00000493744.5, ENST00000657090.1, ENST00000663479.2, ENST00000676826.2 )
GNAS p.Leu131= (p.L131=) ( ENST00000306090.12, ENST00000306120.4, ENST00000313949.11, ENST00000349036.9, ENST00000371075.7, ENST00000371098.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000423897.7, ENST00000453292.7, ENST00000462499.6, ENST00000467227.6, ENST00000472183.6, ENST00000482112.6, ENST00000491348.5, ENST00000493744.5, ENST00000657090.1, ENST00000663479.2, ENST00000676826.2 )
Associated Disease
chronic lymphocytic leukemia
Source Database
CIViC Evidence
Description
In a retrospective study of 144 patients with B-cell chronic lymphocytic leukemia, the median progression-free survival was significantly different between GNAS T393C genotypes (TT 130 months; TC 100 months; CC 31 months; P = 0.0066) and an independent prognostic factor for progression-free survival by multivariable analysis [hazard ratio (HR) CC versus TT 2.7; P = 0.010]. CC genotypes were at highest risk for death compared with T-alleles (median overall survival 197 vs 310 months, respectively) in both univariate (HR, 4.8; P < 0.0001) and multivariable analysis (HR, 5.6; P = 0.002).
Evidence Type
Prognostic
Variant Origin
Common Germline
Variant Origin
Common Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2897
Gene URL
https://civic.genome.wustl.edu/links/genes/2319
Variant URL
https://civic.genome.wustl.edu/links/variants/877
Rating
4
Disease
Chronic Lymphocytic Leukemia
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Better Outcome
Pubmed
17020971
Drugs