Variant · Snv
SBDS NM_016038.4(SBDS):c.258+2T>C
CI-VAR-00005310Explore in graph →NM_016038.4:c.258+2T>CClinVar 3196 rs113993993
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 |
|---|---|---|---|---|---|---|---|---|
| 3196 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Shwachman-Diamond syndrome 1; Aplastic anemia, susceptibility to; Inborn genetic diseases; Agenesis of permanent teeth; Deeply set eye; Short stature; Splenomegaly; Microcephaly; Aplastic anemia; Shwachman syndrome; SBDS-related disorder; Intellectual disability; Lymphoma; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia; Familial pancreatic carcinoma; Hepatocellular carcinoma; Nonpapillary renal cell carcinoma; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Malignant tumor of urinary bladder; Malignant tumor of esophagus; Cervical cancer; Ovarian cancer; Fetal anomalies with a likely genetic cause; Non-Fanconi anemia cytopenia | germline | 68 | Apr 01, 2026 | clinvar |