S240W (p.Ser240Trp) variant of STK11 (Q15831)
S240W (p.Ser240Trp) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor of testis. The record also includes published literature and structural context.
S240W (p.Ser240Trp) variant details
- p.Ser240Trp
- rs730881976
- ClinGen CA023243
- ClinVar RCV000160995
- ClinVar RCV000763422
- Likely pathogenic
- Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor of testis
- Missense
- ClinVar: Likely pathogenic (Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor o)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)