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GNAS
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GNAS codon(s) 201, 844 any
GeneGNAS
Variantany
Transcript ID (GRCh37/hg19)ENST00000371100
Codons201, 844
Exons1, 8
Genomic Coordinates (GRCh37/hg19)20:57428921-57428923, 20:57484420-57484422
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 2
GNAS
Variants
GNAS codon(s) 201, 844 any
Primary Sites
Lung
Kidney
Tumor Types
Adenocarcinoma
Interpretation

This GNAS mutation causes constitutive activation of the G-protein complex and activates adenylate cyclase to produce cyclic-AMP (cAMP) that can activate oncogenic pathways. The R201 mutation in GNAS was thought to both drive tumor progression and confer exceptional chemo-sensitivity in a patient with an unclassified kidney cancer.

Last updated: 2019-04-30 14:30:45 UTC
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Tier 2
GNAS
Variants
GNAS codon(s) 201, 844 any
Primary Sites
Pancreas
Tumor Types
Adenocarcinoma
Interpretation

Somatic mutations in GNAS are frequently found in intraductal papillary mucinous neoplasms (IPMNs) of pancreas, and have been identified in 41% to 66% of cases. All of these mutations involved codon 201 (R201C or R201H). However, the GNAS mutation was infrequent in typical pancreatic ductal adenocarcinomas (PDAs). These mutations are lead to disruption of the intrinsic hydrolytic activity of Gsα, leading to constitutive activation. GNAS mutations seem to be an early event in IPMN development. The clinical significance of these mutations remains to be established.

Last updated: 2016-06-07 02:23:28 UTC
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Tier 1
GNAS
Variants
GNAS codon(s) 201, 844 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Interpretation

GNAS (Guanine Nucleotide Binding Protein, Alpha, Stimulating Activity Polypeptide, G-S-alpha) is a component of the heterotrimeric G protein complex that has been shown to be mutated in less than 1% of myelodysplastic syndrome. Mutations of Arg201 of GNAS are typically activating mutations which have been described in various types of solid tumors and McCune Albright syndrome.

Last updated: 2016-06-05 02:16:46 UTC
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Tier 2
GNAS
Variants
GNAS codon(s) 201, 844 any
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

GNAS is a component of the heterotrimeric G-protein complex that has been shown to be mutated in 3-7% of colorectal cancers. Mutations at codon R201 of GNAS are typically activating mutations which have been described in various types of solid tumors. These mutations result in disruption of the intrinsic hydrolytic activity of Gsa, leading to constitutive activation. The clinical significance of these mutations in colorectal cancer remains to be established. Correlation with other clinical and laboratory findings is recommended.

Last updated: 2018-03-28 18:20:06 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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