Variant · Snv
ALMS1 NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser)
CI-VAR-00058526Explore in graph →p.Asn3305SerNM_001378454.1:c.9914A>GClinVar 393379 rs142022233
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 |
|---|---|---|---|---|---|---|---|---|
| 393379 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Monogenic diabetes; Alstrom syndrome; Cardiovascular phenotype; Gastric cancer; Ovarian serous cystadenocarcinoma; Melanoma; Hepatocellular carcinoma; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Cervical cancer; Thyroid cancer, nonmedullary, 1; Acute myeloid leukemia | germline | 10 | Jun 01, 2026 | clinvar |