G19S (p.Gly19Ser) variant of PTCH1 (Protein patched homolog 1)
G19S (p.Gly19Ser) 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 Neuroblastoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- rs778460384
- ClinGen CA5139065
- ClinVar RCV000761070
- ClinVar RCV000828033
- Conflicting interpretations
- Neuroblastoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.19
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Neuroblastoma; Hereditary cancer-predisposing syndrome; not prov)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- 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)