Variant · Snv
PTPN22 NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn)
CI-VAR-00034657Explore in graph →p.Lys750AsnNM_015967.8:c.2250G>CClinVar 218728 rs56048322
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 218728 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | PTPN22-related disorder; Melanoma; Hepatocellular carcinoma; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Lung cancer; Uterine corpus endometrial carcinoma; Lymphoma; Thymoma; Familial cancer of breast; Familial pancreatic carcinoma; Colon adenocarcinoma; Colorectal cancer; Sarcoma; Gastric cancer | germline | 5 | Jun 01, 2026 | clinvar |