P7S (p.Pro7Ser) variant of BARD1 (Q99728)
P7S (p.Pro7Ser) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs1158534804
- ClinGen CA350465444
- ClinVar RCV000773192
- ClinVar RCV001214570
- Uncertain significance
- Familial cancer of breast; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.19
- CADD 18.20
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (Familial cancer of breast; not provided; Hereditary cancer-predi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)