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Interpretation 72
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.

Citations
  1. Bejar R, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med 2011;364(26):2496-506
  2. Weinstein LS, et al. Minireview: GNAS: normal and abnormal functions. Endocrinology 2004;145(12):5459-64
Last updated: 2016-06-05 02:16:46 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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