A17G (p.Ala17Gly) variant of BRCA1 (P38398)
A17G (p.Ala17Gly) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- rs1412871417
- ClinGen CA10602057
- ClinVar RCV001078133
- TOPMed rs1412871417
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.43
- MetaSVM -0.15
- CADD 23.70
- EVE 0.61
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.96
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)