HUWE1 NM_031407.7(HUWE1):c.5716+5G>A

CI-VAR-00020408Explore in graph →NM_031407.7:c.5716+5G>AClinVar 129254 rs139135300

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
129254	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Inborn genetic diseases; Intellectual disability, X-linked syndromic, Turner type; HUWE1-related disorder; Uterine corpus endometrial carcinoma; Sarcoma; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia; Cervical cancer; Familial cancer of breast	germline	8	Feb 03, 2026	clinvar