D2G (p.Asp2Gly) variant of BRCA1 (P38398)
D2G (p.Asp2Gly) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes experimental measurements, published literature, and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- rs2055745664
- ClinGen CA10602148
- ClinVar RCV001077628
- ClinVar RCV001372200
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.55
- MetaSVM 0.12
- CADD 23.30
- EVE 0.62
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.25
- 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)