Variant · Snv
HPS1 NM_000195.5(HPS1):c.779G>A (p.Arg260Gln)
CI-VAR-00126536Explore in graph →p.Arg260GlnNM_000195.5:c.779G>AClinVar 774558 rs56378825
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 |
|---|---|---|---|---|---|---|---|---|
| 774558 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Hermansky-Pudlak syndrome; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Gastric cancer; Thymoma; Cervical cancer; Malignant tumor of esophagus | germline | 8 | Feb 02, 2026 | clinvar |