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Gene | FANCA |
Variant | S1088F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA S1088F lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). The functional effect of S1088F is conflicting as it results in decreased Fancd2 and Fanci monoubiquitination and decreased DNA repair in response to mitomycin C treatment in culture in one study (PMID: 28864460), but restores Fancd2 monoubiquitination, confers resistance to mitomycin C-induced cell death and G2/M cell cycle block to levels similar of wild-type protein in FANCA-null cells in another study (PMID: 31586946). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA S1088F |
Transcript | NM_000135.4 |
gDNA | chr16:g.89748744G>A |
cDNA | c.3263C>T |
Protein | p.S1088F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135 | chr16:g.89748744G>A | c.3263C>T | p.S1088F | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89748744G>A | c.3263C>T | p.S1088F | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89748744G>A | c.3263C>T | p.S1088F | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89748744G>A | c.3263C>T | p.S1088F | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89748744G>A | c.3263C>T | p.S1088F | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89748744G>A | c.3263C>T | p.S1088F | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89748744G>A | c.3263C>T | p.S1088F | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89748744G>A | c.3263C>T | p.S1088F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FANCA S1088F | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, overexpression of FANCA S1088F in FANCA-null cells derived from Fanconi anemia patients resulted in increased sensitivity to Platinol (cisplatin) compared to wild-type Fanca expression in culture (PMID: 28864460). | 28864460 |
FANCA S1088F | prostate cancer | predicted - sensitive | Olaparib | Preclinical - Pdx | Actionable | In a preclinical study, overexpression of FANCA S1088F in FANCA-null cells derived from Fanconi anemia patients resulted in increased sensitivity to Lynparza (olaparib) in culture, and a patient-derived xenograft (PDX) model of prostate cancer harboring germline FANCA S1088F demonstrated enhanced sensitivity to Lynparza (olaparib) treatment (PMID: 28864460). | 28864460 |