D23G (p.Asp23Gly) variant of BRCA2 (P51587)
D23G (p.Asp23Gly) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- rs774521832
- ClinGen CA6940320
- cosmic curated COSV10654
- ClinVar RCV000772644
- Uncertain significance
- Missense
- REVEL 0.20
- AlphaMissense 0.54
- MetaLR 0.02
- MetaSVM -1.10
- CADD 29.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)