S5T (p.Ser5Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
S5T (p.Ser5Thr) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mismatch repair cancer syndrome 3; Endometrial carcinoma; Lynch syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- rs532585602
- ClinGen CA067765
- ClinVar RCV003593807
- ClinVar RCV005392646
- Conflicting interpretations
- Mismatch repair cancer syndrome 3; Endometrial carcinoma; Lynch syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.37
- MetaLR 0.41
- MetaSVM -0.37
- CADD 23.60
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Mismatch repair cancer syndrome 3; Endometrial carcinoma; Lynch)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)