COL5A1 NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)

CI-VAR-00022320Explore in graph →p.Thr1374=NM_000093.5:c.4122G>AClinVar 136889 rs3827848

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.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
136889	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal; Familial thoracic aortic aneurysm and aortic dissection; Uveal melanoma; Malignant lymphoma, large B-cell, diffuse; Uterine carcinosarcoma; Cholangiocarcinoma; Hepatocellular carcinoma; Ovarian cancer	germline	14	Feb 04, 2026	clinvar