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CDH1 A403T
GeneCDH1
Variantmissense
Amino Acid ChangeA403T
Transcript ID (GRCh37/hg19)ENST00000261769
Codon403
Exon9
Genomic Coordinates (GRCh37/hg19)16:68847285-68847285
COSMIC ID972788
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 3
CDH1
Variants
CDH1 A403T
Primary Sites
Brain
Tumor Types
Glioblastoma
Interpretation

CDH1 on 16q22.1 encodes E-cadherin which functions in intercellular adhesion. E-cadherin is involved in transmitting chemical signals and controlling cell maturation and movement, and acts as a tumor suppressor. CDH1 is rare in this tumor type and is found in approximately 1% of glioblastomas. The CDH1 A403T variant has not been characterized in the literature and therefore has an unknown effect on protein function and is best classified as a variant of uncertain significance (VUS). The clinical significance of CDH1 in glioblastoma is unknown and its clinicopathologic effect remains to be further elucidated.

Last updated: 2018-06-13 18:58:22 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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