Variant · Indel
PMS2 K706FS*19
CI-VAR-00002170Explore in graph →NP_000526.2:p.Lys706SerfsNM_000535.6:c.2117delAClinVar 142765 CIViC 508 rs587782704
Curated evidence
Evidence by cancer (1 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 27001570
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Glioblastoma1 | ||||||||
| PMS2 K706FS*19 | Nivolumab | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1214Two siblings (6 and 3.5 years) from nonconsanguineous parents were diagnosed with glioblastoma multiforme. Both tumors harbored TP53 mutations and lack of MGMT promoter hypermethylation as poor progno… (full text at CIViC) PMID 27001570 · Bouffet et al., 2016 · Open in CIViC | civic |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 142765 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hereditary cancer-predisposing syndrome; Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 4; Endometrial carcinoma; Hereditary nonpolyposis colon cancer; PMS2-related disorder | germline | 20 | Jan 26, 2026 |