ERCC2 NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)

CI-VAR-00021113Explore in graph →p.Ala717GlyNM_000400.4:c.2150C>GClinVar 134102 rs144564120

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
134102	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	ERCC2-related disorder; Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; Inborn genetic diseases; Xeroderma pigmentosum; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Cerebrooculofacioskeletal syndrome 2; Melanoma; Cervical cancer; Familial cancer of breast; Autosomal recessive ERCC2-related disorders	germline	19	Apr 01, 2026	clinvar