G2S (p.Gly2Ser) variant of CDH1 (Cadherin-1)
G2S (p.Gly2Ser) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of CDH1-related diffuse gastric and lobular breast cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- rs786201212
- ClinGen CA187442
- ClinVar RCV000163100
- ClinVar RCV000458853
- Likely benign
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.23
- MetaLR 0.18
- MetaSVM -0.88
- PolyPhen-2 0.96
- SIFT 0.01
- MutPred 0.42
- ClinVar: Likely benign (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)