Variant · Snv
AARS2 NM_020745.4(AARS2):c.1752G>A (p.Glu584=)
CI-VAR-00022156Explore in graph →p.Glu584=NM_020745.4:c.1752G>AClinVar 136231 rs78525157
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 136231 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Combined oxidative phosphorylation defect type 8; Leukoencephalopathy, progressive, with ovarian failure; AARS2-related disorder; Ovarian cancer; Colon adenocarcinoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Melanoma; Uterine corpus endometrial carcinoma; Nonpapillary renal cell carcinoma; Familial cancer of breast; Clear cell carcinoma of kidney; Acute myeloid leukemia; Cervical cancer | germline | 7 | Jan 21, 2026 | clinvar |