ERCC2 S44L

CI-VAR-00004068Explore in graph →CIViC 3502

Curated evidence

Evidence by cancer (2 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.

civicCuratedShowing 1–2 of 2 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Bladder Carcinoma1
ERCC2 S44L	Chemotherapy	Predictive	C	Does Not Support Sensitivity Response	2	submitted	EID11502 Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF0950). The patient was ca… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC	civic
Unmapped disease1unmapped disease
ERCC2 S44L	(functional)	Functional	D	Supports Loss Of Function	2	submitted	EID9688 Mutations in the nucleotide excision repair (NER) gene ERCC2 have been associated with response to cisplatin. The variant S44L lies in a highly conserved helicase domain and was shown to drastically r… (full text at CIViC) PMID ·

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.