Variant · Snv
PKP2 NM_001005242.3(PKP2):c.791C>T (p.Ala264Val)
CI-VAR-00008593Explore in graph →p.Ala264ValNM_001005242.3:c.791C>TClinVar 45085 rs62001016
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 |
|---|---|---|---|---|---|---|---|---|
| 45085 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 9; Uterine corpus endometrial carcinoma; Gastric cancer; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia | germline | 14 | Feb 04, 2026 | clinvar |