I21M (p.Ile21Met) variant of BRCA1 (P38398)
I21M (p.Ile21Met) 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 0.25 / 1. The record also includes experimental measurements, published literature, and structural context.
I21M (p.Ile21Met) variant details
- p.Ile21Met
- rs1555600921
- ClinGen CA10602029
- ClinVar RCV001072388
- ClinVar RCV001862477
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- ESM-1b 0.00
- AlphaMissense 0.30
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -2.06
- 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)