G37A (p.Gly37Ala) variant of PTCH1 (Protein patched homolog 1)
G37A (p.Gly37Ala) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Gorlin syndrome; Breast carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
G37A (p.Gly37Ala) variant details
- p.Gly37Ala
- rs748780206
- ClinGen CA374121411
- ClinVar RCV001017327
- ClinVar RCV001205535
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; Breast carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.09
- MetaLR 0.44
- MetaSVM -0.72
- PolyPhen-2 0.00
- SIFT 0.83
- MutPred 0.18
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gorlin syndrome; Breast)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)