Variant · Snv
LTBP4 NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn)
CI-VAR-00058449Explore in graph →p.Asp685AsnNM_001042545.2:c.2053G>AClinVar 386527 rs34093919
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 |
|---|---|---|---|---|---|---|---|---|
| 386527 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Thymoma; Uterine corpus endometrial carcinoma; Uveal melanoma; Melanoma; Acute myeloid leukemia; Clear cell carcinoma of kidney; Colon adenocarcinoma; Thyroid cancer, nonmedullary, 1; Cholangiocarcinoma; Malignant tumor of esophagus; Lung cancer; Cervical cancer | germline | 9 | Feb 04, 2026 | clinvar |