M1T (p.Met1Thr) variant of PALB2 (Partner and localizer of BRCA2)
M1T (p.Met1Thr) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs756519825
- ClinGen CA7963891
- ClinVar RCV000230496
- ClinVar RCV002436040
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- MetaLR 0.13
- MetaSVM -0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)