T37N (p.Thr37Asn) variant of MSH3 (DNA mismatch repair protein Msh3)
T37N (p.Thr37Asn) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T37N (p.Thr37Asn) variant details
- p.Thr37Asn
- rs759573423
- ClinGen CA121287710
- ClinVar RCV000796937
- ClinVar RCV002424827
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.11
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Endometri)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- 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)