Variant · Snv
DNA2 NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser)
CI-VAR-00056702Explore in graph →p.Asn550SerNM_001080449.3:c.1649A>GClinVar 385006 rs141731085
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 385006 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Seckel syndrome 8; Mitochondrial DNA deletion syndrome with progressive myopathy; DNA2-related disorder; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia; Malignant tumor of urinary bladder; Cervical cancer; Uterine corpus endometrial carcinoma; Ovarian serous cystadenocarcinoma; Clear cell carcinoma of kidney; Uterine carcinosarcoma; Familial cancer of breast | germline | 6 | Jan 28, 2026 | clinvar |