S10R (p.Ser10Arg) variant of PALB2 (Partner and localizer of BRCA2)
S10R (p.Ser10Arg) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- rs758500749
- ClinGen CA7963889
- ClinVar RCV002019440
- ClinVar RCV003355751
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)