R1242S (p.Arg1242Ser) variant of MSH6 (DNA mismatch repair protein Msh6)
R1242S (p.Arg1242Ser) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome; Hereditary nonpolyposis colon cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R1242S (p.Arg1242Ser) variant details
- p.Arg1242Ser
- rs587779285
- ClinGen CA014030
- ClinVar RCV000216969
- ClinVar RCV000684809
- Likely pathogenic
- Lynch syndrome; Hereditary nonpolyposis colon cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.81
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Lynch syndrome; Hereditary nonpolyposis colon cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)