N671I (p.Asn671Ile) variant of MSH2 (DNA mismatch repair protein Msh2)
N671I (p.Asn671Ile) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
N671I (p.Asn671Ile) variant details
- p.Asn671Ile
- rs1558519505
- ClinGen CA346729084
- ClinVar RCV002417369
- ClinVar RCV004584975
- Pathogenic/Likely pathogenic
- Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Breast-ovarian cancer, familial, susceptibility to, 1; Hereditar)
- EBI: Pathogenic (in LYNCH1)
- UniProt: Pathogenic (in LYNCH1)
- Structural context available
- 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)