N30S (p.Asn30Ser) variant of BRCA2 (P51587)
N30S (p.Asn30Ser) 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.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- rs2072284356
- ClinGen CA387754093
- ClinVar RCV001175886
- ClinVar RCV002298879
- Uncertain significance
- Missense
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -1.16
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)