H36R (p.His36Arg) variant of BARD1 (Q99728)
H36R (p.His36Arg) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BARD1-related cancer predisposition; Hereditary cancer-predisposing syndrome; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H36R (p.His36Arg) variant details
- p.His36Arg
- rs864622635
- ClinGen CA349168
- ClinVar RCV000204988
- ClinVar RCV000569999
- Uncertain significance
- BARD1-related cancer predisposition; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.26
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.37
- ClinVar: Uncertain significance (BARD1-related cancer predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-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)