FLCN c.1285dupC

CI-VAR-00004891Explore in graph →NP_659434.2:p.His429fsNM_144997.7:c.1285dupClinVar 3363 CIViC 3727 rs80338682

Curated evidence

Evidence by cancer (1 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 1–1 of 1 evidence items across 1 cancer context 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
Renal Cell Carcinoma1
FLCN c.1285dupC	Everolimus	Predictive	C	Supports Sensitivity Response	1	accepted	EID10137 A case study showed that the mTOR inhibitor everolimus exhibited a relatively long-term effect in a patient with renal cell carcinoma and a FLCN germline mutation (c. 1285dupC, likely loss of function… (full text at CIViC) PMID 23995526 · Nakamura et al., 2013 · Open in CIViC	civic

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
3363	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Hereditary cancer-predisposing syndrome; Nonpapillary renal cell carcinoma; 17p11.2 microduplication syndrome; Colorectal cancer; FLCN-related disorder; Birt-Hogg-Dube syndrome 1; Inherited renal cancer; Neoplasm; FLCN-related disorders	germline/somatic	35