S7G (p.Ser7Gly) variant of SUFU (Suppressor of fused homolog)
S7G (p.Ser7Gly) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S7G (p.Ser7Gly) variant details
- p.Ser7Gly
- rs2062288510
- ClinGen CA377886106
- ClinVar RCV001874556
- ClinVar RCV006287504
- Conflicting interpretations
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.09
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)