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PTEN Y68H
GenePTEN
Variantmissense
Amino Acid ChangeY68H
DNA Change (Coding Nucleotide)202T>C
Transcript ID (GRCh37/hg19)ENST00000371953
Codon68
Exon3
Genomic Coordinates (GRCh37/hg19)10:89685307-89685307
Germline/Somatic?Germline
Pertinent Negative In
Tumor TypePrimary Site
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PTEN
Variants
PTEN Y68H
Primary Sites
Endometrium
Tumor Types
Adenocarcinoma
Interpretation

PTEN is a tumor suppressor gene, located on chromosome 10q23. It encodes a lipid and protein phosphatase that negatively regulates the PI3K/AKT/mTOR pathway. Cancer-associated alterations in this gene often result in loss of PTEN protein and upregulation of the PI3K/AKT/mTOR pathway. Germline mutations of PTEN lead to inherited hamartoma and Cowden syndrome while somatic mutations are also known to occur in multiple malignancies. PTEN p.Y68H is a reported pathogenic variant that causes tyrosine to histidine substitution at codon 68 affecting NH2-terminal phosphatase domain. This variant has been reported previously in association with PTEN-related disorders. Functional studies demonstrate that individuals harboring this variant have decreased levels of the PTEN protein when compared to wild type controls. However, its clinical significance remains to be fully elucidated.

Last updated: 2016-10-11 21:36:23 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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