A76L (p.Ala76Leu) variant of CDKN2A (Tumor suppressor ARF)
A76L (p.Ala76Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Melanoma-pancreatic cancer syndrome; Fa. The record also includes published literature.
A76L (p.Ala76Leu) variant details
- p.Ala76Leu
- rs876658534
- ClinGen CA10578845
- ClinVar RCV000213270
- ClinVar RCV000472170
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Melanoma-pancreatic cancer syndrome; Fa
- Missense
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Melanoma-pancreatic can)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma… (PMID 9425228)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)