FLCN (Folliculin) variants and mutations
FLCN (also known as Folliculin) is a human protein-coding gene encoding a folliculin protein. It couples lysosomal nutrient sensing to AMPK, mTOR, and related pathways and helps regulate cell growth and metabolism. Germline loss-of-function variants cause Birt-Hogg-Dube syndrome with fibrofolliculomas, pulmonary cysts, pneumothorax, and renal-tumor predisposition. This analysis covers 1,843 FLCN variants and mutations. Of these, 52% have computational variant effect predictions. Disease context includes Birt-Hogg-Dube syndrome 1, familial spontaneous pneumothorax, and Birt-Hogg-Dube syndrome. Example FLCN variants include M1?, M1I, and M1T.
Variant analysis overview
- Gene: FLCN
- Protein: Folliculin
- UniProt accession: Q8NFG4
- Organism: Homo sapiens
- Variants analyzed: 1843
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,677 unspecified-consequence records; 99 synonymous variants; 20 frameshift variants; 38 missense variants; 4 in-frame deletions; 2 splice-region variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 964 variants have prediction scores (52% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Birt-Hogg-Dube syndrome 1, familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome, pneumothorax, Birt-Hogg-Dubé syndrome, Spontaneous pneumothorax, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, nonpapillary renal cell carcinoma, colorectal cancer, colon carcinoma, Potocki-Lupski syndrome.
Protein structure and variant hotspots
- Protein features: 3 domains; 7 post-translational modification sites.
- Structural context: 1,215 variants have structural context.
- PTM context: 28 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable FLCN variants
Examples include M1?, M1I, M1T, M1V, A3V, I4L, I4M, I4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5325, cosmic curated COSV53258, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs879255658, ClinGen CA10586274, ClinVar RCV000239708, Pathogenic, Birt-Hogg-Dube syndrome
- M1T (p.Met1Thr), rs2544315808, ClinGen CA398535535, ClinVar RCV002790426, Pathogenic, Birt-Hogg-Dube syndrome
- M1V (p.Met1Val), rs2047316806, ClinGen CA398535538, ClinVar RCV001295990, ClinVar RCV005601736, Pathogenic/Likely pathogenic, Birt-Hogg-Dube syndrome; Birt-Hogg-Dube syndrome 1
- A3V (p.Ala3Val), Ensembl rs2145051173, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- I4L (p.Ile4Leu), rs1555611575, ClinGen CA398535517, ClinVar RCV002025827, TOPMed rs1555611575, Uncertain significance, Birt-Hogg-Dube syndrome
- I4M (p.Ile4Met), rs752123350, ClinGen CA398535511, ClinVar RCV003293575, ClinVar RCV004572905, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome; Birt-Hogg-Dube
- I4V (p.Ile4Val), rs1555611575, ClinGen CA398535516, ClinVar RCV000635529, ClinVar RCV001124934, REVEL 0.29, CADD 18.70, Uncertain significance, Familial spontaneous pneumothorax; Birt-Hogg-Dube syndrome; 17p11.2 microduplica
- V5E (p.Val5Glu), Ensembl rs2145050959
- V5M (p.Val5Met), rs767235709, ClinGen CA8416539, NCI-TCGA Cosmic COSV9955, cosmic curated COSV99550, REVEL 0.56, CADD 25.20, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- A6P (p.Ala6Pro), Ensembl rs2145050851, Uncertain significance
- A6T (p.Ala6Thr), rs2145050851, ClinGen CA398535505, ClinVar RCV003300734, Ensembl rs2145050851, Uncertain significance, Hereditary cancer-predisposing syndrome
- A6V (p.Ala6Val), NCI-TCGA TCGA novel, Uncertain significance, Hereditary cancer-predisposing syndrome
- C8S (p.Cys8Ser), cosmic curated COSV10941, Ensembl rs2145050709
- C8Y (p.Cys8Tyr), NCI-TCGA Cosmic COSV9954, cosmic curated COSV99549, Ensembl rs2145050709, REVEL 0.94, CADD 26.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- H9L (p.His9Leu), gnomAD rs1060502373, Uncertain significance
- H9R (p.His9Arg), rs1060502373, ClinGen CA16615133, ClinVar RCV000461258, gnomAD rs1060502373, REVEL 0.97, CADD 26.00, Uncertain significance, Birt-Hogg-Dube syndrome
- H9Y (p.His9Tyr), rs2544315169, ClinGen CA398535483, ClinVar RCV003501396, Uncertain significance, Birt-Hogg-Dube syndrome
- F10S (p.Phe10Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- F10V (p.Phe10Val), NCI-TCGA Cosmic COSV9955, cosmic curated COSV99550, Variant assessed as somatic; moderate impact.
- C11* (p.Cys11Ter), rs754616167, ClinGen CA398535464, ClinVar RCV000492609, ClinVar RCV000578955, CADD 25.20, Pathogenic
- C11G (p.Cys11Gly), rs879255659, ClinGen CA398535469, ClinVar RCV000817471, Ensembl rs879255659, Uncertain significance, Birt-Hogg-Dube syndrome
- C11R (p.Cys11Arg), rs879255659, ClinGen CA398535470, ClinVar RCV003607091, Uncertain significance, Birt-Hogg-Dube syndrome
- C11S (p.Cys11Ser), rs879255659, ClinGen CA10586273, ClinVar RCV000239640, Ensembl rs879255659, Uncertain significance, Birt-Hogg-Dube syndrome
- C11W (p.Cys11Trp), rs754616167, ClinGen CA398535465, ClinVar RCV001297304, ClinVar RCV001812962, REVEL 0.79, CADD 15.20, Pathogenic/Likely pathogenic, Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- C11Y (p.Cys11Tyr), rs2544314925, ClinGen CA398535467, ClinVar RCV002326214, Likely pathogenic, Hereditary cancer-predisposing syndrome
- E12G (p.Glu12Gly), rs2145050342, ClinGen CA398535460, ClinVar RCV002295154, Uncertain significance, Birt-Hogg-Dube syndrome
- E12K (p.Glu12Lys), rs751171641, ClinGen CA8416537, cosmic curated COSV53258, ClinVar RCV001315894, REVEL 0.89, CADD 27.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- E12V (p.Glu12Val), Ensembl rs2145050342
- L13F (p.Leu13Phe), Ensembl rs2145050302, Uncertain significance, Hereditary cancer-predisposing syndrome
- L13P (p.Leu13Pro), Ensembl rs2145050271
- H14L (p.His14Leu), Ensembl rs2145050207
- G15D (p.Gly15Asp), NCI-TCGA Cosmic COSV5325, cosmic curated COSV53259, Ensembl rs2145050049, Variant assessed as somatic; moderate impact.
- G15R (p.Gly15Arg), ExAC rs539468848, gnomAD rs539468848, Likely benign
- G15S (p.Gly15Ser), rs539468848, ClinGen CA8416535, ClinVar RCV001022425, ClinVar RCV001298715, REVEL 0.90, CADD 26.20, Conflicting interpretations, Birt-Hogg-Dube syndrome; Birt-Hogg-Dube syndrome 1; not provided
- G15V (p.Gly15Val), rs2145050049, ClinGen CA398535440, ClinVar RCV003607771, Uncertain significance, Birt-Hogg-Dube syndrome
- P16H (p.Pro16His), rs1597618496, ClinGen CA398535435, ClinVar RCV002337862, Uncertain significance, Hereditary cancer-predisposing syndrome
- P16L (p.Pro16Leu), rs1597618496, ClinGen CA398535433, ClinVar RCV001246982, ClinVar RCV002339686, REVEL 0.96, CADD 28.40, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- P16S (p.Pro16Ser), rs977734712, ClinGen CA288320867, ClinVar RCV001913758, ClinVar RCV002331440, Uncertain significance, Hereditary cancer-predisposing syndrome
- R17C (p.Arg17Cys), rs765251703, ClinGen CA8416533, NCI-TCGA Cosmic COSV5325, cosmic curated COSV53259, REVEL 0.74, CADD 32.00, Uncertain significance, Colorectal cancer; Familial spontaneous pneumothorax; 17p11.2 microduplication s
- R17H (p.Arg17His), rs398124537, ClinGen CA398535429, NCI-TCGA Cosmic COSV5325, cosmic curated COSV53257, REVEL 0.70, CADD 28.30, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- R17P (p.Arg17Pro), rs398124537, ClinGen CA224172, ClinVar RCV000082639, TOPMed rs398124537, Uncertain significance, not provided
- R17S (p.Arg17Ser), rs765251703, ClinGen CA398535432, ClinVar RCV002343009, Uncertain significance, Hereditary cancer-predisposing syndrome
- T18A (p.Thr18Ala), rs2047314194, ClinGen CA2250420706, ClinVar RCV001331744, Ensembl rs2047314194, REVEL 0.59, CADD 24.60, Uncertain significance, Birt-Hogg-Dube syndrome
- T18I (p.Thr18Ile), rs2047314341, ClinGen CA398535424, ClinVar RCV001243119, ClinVar RCV004570618, Uncertain significance, Birt-Hogg-Dube syndrome 1; Birt-Hogg-Dube syndrome
- T18P (p.Thr18Pro), rs761993256, ClinGen CA398535428, ClinVar RCV001221879, ClinVar RCV001776150, Uncertain significance, Birt-Hogg-Dube syndrome; not provided
- T18S (p.Thr18Ser), rs2047314341, ClinVar RCV004576620, Ensembl rs2047314341, REVEL 0.62, CADD 26.00, Uncertain significance, Birt-Hogg-Dube syndrome 1
- L19P (p.Leu19Pro), rs2047313909, ClinGen CA398535419, ClinVar RCV001055395, Ensembl rs2047313909, REVEL 0.94, CADD 29.60, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- L19V (p.Leu19Val), rs1282654875, ClinGen CA398535422, ClinVar RCV003165019, ClinVar RCV003778939, REVEL 0.54, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- F20* (p.Phe20Ter), rs2544313773, ClinGen CA2695201256, ClinVar RCV003461591, Likely pathogenic
- F20Y (p.Phe20Tyr), rs1555611550, ClinGen CA398535414, ClinVar RCV000535153, ClinVar RCV000562808, REVEL 0.86, CADD 25.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- C21R (p.Cys21Arg), rs2544313713, ClinGen CA398535408, ClinVar RCV002781282, ClinVar RCV003324859, REVEL 0.94, CADD 29.40, Uncertain significance, not provided; Birt-Hogg-Dube syndrome
- C21Y (p.Cys21Tyr), rs1025567379, ClinGen CA288320819, ClinVar RCV000804774, ClinVar RCV001025105, REVEL 0.84, CADD 26.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1; not provided
- T22K (p.Thr22Lys), rs768734584, ClinGen CA398535399, ClinVar RCV003326273, Pathogenic, Birt-Hogg-Dube syndrome
- T22M (p.Thr22Met), rs768734584, ClinGen CA8416529, cosmic curated COSV53263, ClinVar RCV000456284, REVEL 0.94, CADD 27.80, Conflicting interpretations, Birt-Hogg-Dube syndrome 1; Hereditary cancer-predisposing syndrome; not specifie
- T22R (p.Thr22Arg), rs768734584, ClinGen CA398535398, ClinVar RCV003501228, Uncertain significance, Birt-Hogg-Dube syndrome
- E23G (p.Glu23Gly), Ensembl rs2145049067
- E23Q (p.Glu23Gln), Ensembl rs2145049116
- E23V (p.Glu23Val), Ensembl rs2145049067
- V24E (p.Val24Glu), Ensembl rs2145048967
- V24G (p.Val24Gly), Ensembl rs2145048967, Uncertain significance, Hereditary cancer-predisposing syndrome
- V24L (p.Val24Leu), rs775626774, ClinGen CA8416527, ClinVar RCV001040382, ClinVar RCV002363572, REVEL 0.42, CADD 22.30, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- L25M (p.Leu25Met), rs967684437, ClinGen CA398535384, ClinVar RCV001897483, TOPMed rs967684437, Uncertain significance, Birt-Hogg-Dube syndrome
- L25P (p.Leu25Pro), rs2047312815, ClinGen CA398535382, ClinVar RCV001341903, Ensembl rs2047312815, Uncertain significance, Birt-Hogg-Dube syndrome
- L25Q (p.Leu25Gln), Ensembl rs2047312815, Uncertain significance
- L25V (p.Leu25Val), rs967684437, ClinGen CA288320798, ClinVar RCV002265462, ClinVar RCV004948664, REVEL 0.26, CADD 20.60, Uncertain significance, not provided; Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- A27G (p.Ala27Gly), ExAC rs757670898, gnomAD rs757670898, Uncertain significance
- A27S (p.Ala27Ser), rs779449668, ClinGen CA398535371, ClinVar RCV001044211, ClinVar RCV002416361, REVEL 0.30, CADD 17.60, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome; Colorectal can
- A27T (p.Ala27Thr), rs779449668, ClinGen CA8416524, cosmic curated COSV53257, ClinVar RCV002044332, REVEL 0.30, CADD 20.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- A27V (p.Ala27Val), rs757670898, ClinGen CA8416523, ClinVar RCV001346690, ClinVar RCV006274197, REVEL 0.35, CADD 23.00, Uncertain significance, not specified; Birt-Hogg-Dube syndrome
- P28A (p.Pro28Ala), rs749758787, ClinGen CA288320764, ClinVar RCV001899605, ClinVar RCV004571462, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1; Birt-Hogg-Du
- P28L (p.Pro28Leu), ExAC rs780588085, TOPMed rs780588085, gnomAD rs780588085, Benign
- P28R (p.Pro28Arg), rs780588085, ClinGen CA8416521, ClinVar RCV000466986, ClinVar RCV001017707, REVEL 0.60, CADD 24.70, Benign/Likely benign, Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome 1
- P28S (p.Pro28Ser), rs749758787, ClinGen CA8416522, ClinVar RCV000229497, ClinVar RCV000380278, REVEL 0.49, CADD 26.30, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial spontaneous pneumothorax; Birt
- P28T (p.Pro28Thr), rs749758787, ClinGen CA398535368, ClinVar RCV002430326, ExAC rs749758787, REVEL 0.57, CADD 25.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- L29F (p.Leu29Phe), cosmic curated COSV53260, Ensembl rs2145048286
- L29H (p.Leu29His), rs150051278, ClinGen CA398535362, ClinVar RCV001220594, ClinVar RCV002447108, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- L29P (p.Leu29Pro), rs150051278, ClinGen CA8416519, ClinVar RCV000687044, ClinVar RCV001556472, REVEL 0.50, CADD 22.90, Conflicting interpretations, Birt-Hogg-Dube syndrome 1; Hereditary cancer-predisposing syndrome; Birt-Hogg-Du
- L29V (p.Leu29Val), rs2145048286, ClinGen CA398535365, ClinVar RCV003293571, REVEL 0.35, CADD 20.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- P30A (p.Pro30Ala), rs2047311657, ClinGen CA398535359, ClinVar RCV001979306, TOPMed rs2047311657, Uncertain significance, Birt-Hogg-Dube syndrome
- P30L (p.Pro30Leu), gnomAD rs2047311584, Uncertain significance
- P30R (p.Pro30Arg), rs2047311584, ClinGen CA398535356, ClinVar RCV002376321, gnomAD rs2047311584, REVEL 0.55, CADD 26.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- P30S (p.Pro30Ser), rs2047311657, ClinGen CA398535358, ClinVar RCV001985400, ClinVar RCV004616909, REVEL 0.53, CADD 26.30, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Q31* (p.Gln31Ter), rs1597618162, ClinGen CA398535352, ClinVar RCV001018999, ClinVar RCV003607382, Pathogenic
- Q31H (p.Gln31His), ExAC rs758326533, gnomAD rs758326533, Likely benign
- Q31L (p.Gln31Leu), Ensembl rs2145047969
- G32A (p.Gly32Ala), ExAC rs587778366, TOPMed rs587778366, gnomAD rs587778366, Uncertain significance
- G32E (p.Gly32Glu), rs587778366, ClinGen CA159764, ClinVar RCV000121100, ClinVar RCV001019544, REVEL 0.31, CADD 22.70, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- G32R (p.Gly32Arg), rs750221380, ClinVar RCV004576619, ClinVar RCV004950804, ExAC rs750221380, REVEL 0.41, CADD 23.70, Uncertain significance, Birt-Hogg-Dube syndrome
- G32V (p.Gly32Val), NCI-TCGA TCGA novel, ExAC rs587778366, TOPMed rs587778366, gnomAD rs587778366, Uncertain significance
- G32W (p.Gly32Trp), ExAC rs750221380, gnomAD rs750221380, Benign
- D33E (p.Asp33Glu), rs375348725, ClinGen CA8416515, ClinVar RCV000816744, ClinVar RCV001019971, REVEL 0.20, CADD 0.04, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- D33H (p.Asp33His), rs386833401, ClinGen CA215939, ClinVar RCV000034798, ClinVar RCV001019769, REVEL 0.37, CADD 19.20, Benign/Likely benign, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- D33N (p.Asp33Asn), cosmic curated COSV10724, ExAC rs386833401, gnomAD rs386833401, Uncertain significance, Hereditary cancer-predisposing syndrome
- D33V (p.Asp33Val), TOPMed rs2047310798
- D33Y (p.Asp33Tyr), rs386833401, ClinGen CA10580176, cosmic curated COSV10583, ClinVar RCV000222636, REVEL 0.46, CADD 22.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- G34E (p.Gly34Glu), rs2047310469, ClinGen CA398535333, ClinVar RCV003293574, ClinVar RCV003500827, REVEL 0.20, CADD 5.47, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome 1; Nonpapillary
- G34R (p.Gly34Arg), rs2047310577, ClinGen CA398535337, ClinVar RCV001206380, ClinVar RCV002436794, REVEL 0.26, CADD 12.60, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- G34V (p.Gly34Val), cosmic curated COSV53262, TOPMed rs2047310469, Uncertain significance, Hereditary cancer-predisposing syndrome
- G34W (p.Gly34Trp), Ensembl rs2047310577, Uncertain significance
- N35I (p.Asn35Ile), Ensembl rs2047310284, Likely benign
- N35K (p.Asn35Lys), Ensembl rs2145047267, Uncertain significance, Hereditary cancer-predisposing syndrome
- N35S (p.Asn35Ser), rs2047310284, ClinGen CA398535327, ClinVar RCV001246782, ClinVar RCV002402785, REVEL 0.21, CADD 0.03, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- N35T (p.Asn35Thr), rs2047310284, ClinGen CA398535328, ClinVar RCV002400964, REVEL 0.18, CADD 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- E36D (p.Glu36Asp), cosmic curated COSV10806, TOPMed rs1256048813, gnomAD rs1256048813, REVEL 0.19, CADD 4.16, Likely benign
- E36G (p.Glu36Gly), Ensembl rs2145047161, Likely benign, Hereditary cancer-predisposing syndrome
- E36Q (p.Glu36Gln), rs1597618071, ClinGen CA398535322, ClinVar RCV001017196, ClinVar RCV005093155, REVEL 0.22, CADD 12.80, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- E36V (p.Glu36Val), Ensembl rs2145047161, Uncertain significance, Hereditary cancer-predisposing syndrome
- D37E (p.Asp37Glu), rs2145046942, ClinGen CA398535308, ClinVar RCV003187528, Ensembl rs2145046942, Uncertain significance, Hereditary cancer-predisposing syndrome
- D37G (p.Asp37Gly), rs2145047013, ClinGen CA398535311, ClinVar RCV003054905, ClinVar RCV003274163, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- D37H (p.Asp37His), Ensembl rs2145047060, Uncertain significance
- D37N (p.Asp37Asn), rs2145047060, ClinGen CA398535315, ClinVar RCV002450625, Ensembl rs2145047060, Uncertain significance, Hereditary cancer-predisposing syndrome
- D37V (p.Asp37Val), Ensembl rs2145047013, Uncertain significance
- D37Y (p.Asp37Tyr), Ensembl rs2145047060, Uncertain significance, Hereditary cancer-predisposing syndrome
- S38C (p.Ser38Cys), Ensembl rs1483917461
- S38I (p.Ser38Ile), rs139418842, ClinGen CA8416514, ClinVar RCV000469363, ClinVar RCV001017432, REVEL 0.27, CADD 16.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; Birt-Hogg-Dube syndrome
- S38N (p.Ser38Asn), ESP rs139418842, ExAC rs139418842, TOPMed rs139418842, gnomAD rs139418842, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- S38R (p.Ser38Arg), Ensembl rs2145046699, Likely benign
- S38T (p.Ser38Thr), rs139418842, ClinGen CA398535303, ClinVar RCV003461590, ESP rs139418842, Uncertain significance, Birt-Hogg-Dube syndrome
- P39A (p.Pro39Ala), gnomAD rs1060502375, Uncertain significance
- P39L (p.Pro39Leu), TOPMed rs1197656765, gnomAD rs1197656765, Uncertain significance
- P39R (p.Pro39Arg), rs1197656765, ClinGen CA398535297, ClinVar RCV000561077, ClinVar RCV002528985, REVEL 0.29, CADD 19.80, Uncertain significance, Colorectal cancer; Nonpapillary renal cell carcinoma; Familial spontaneous pneum
- P39S (p.Pro39Ser), rs1060502375, ClinGen CA398535299, ClinVar RCV001926295, gnomAD rs1060502375, REVEL 0.30, CADD 12.30, Uncertain significance, Birt-Hogg-Dube syndrome
- P39T (p.Pro39Thr), rs1060502375, ClinGen CA16615393, ClinVar RCV000461771, ClinVar RCV002374781, REVEL 0.23, CADD 11.50, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- G40A (p.Gly40Ala), Ensembl rs2145046402, Uncertain significance
- G40D (p.Gly40Asp), Ensembl rs2145046402, Uncertain significance
- G40R (p.Gly40Arg), Ensembl rs2145046466
- G40S (p.Gly40Ser), Ensembl rs2145046466
- G40V (p.Gly40Val), rs2145046402, ClinGen CA398535290, ClinVar RCV001999558, Ensembl rs2145046402, Uncertain significance, Birt-Hogg-Dube syndrome
- Q41* (p.Gln41Ter), rs1254608489, ClinGen CA398535287, ClinVar RCV000692108, ClinVar RCV002352139, Pathogenic
- Q41E (p.Gln41Glu), rs1254608489, ClinGen CA398535288, ClinVar RCV000703712, ClinVar RCV002360814, REVEL 0.35, CADD 13.30, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Q41H (p.Gln41His), Ensembl rs2145046228, NCI-TCGA Cosmic COSV5325, cosmic curated COSV53258, Variant assessed as somatic; moderate impact.
- Q41P (p.Gln41Pro), rs2047309411, ClinGen CA398535284, ClinVar RCV001219112, Ensembl rs2047309411, Uncertain significance, Birt-Hogg-Dube syndrome
- Q41R (p.Gln41Arg), rs2047309411, ClinGen CA398535285, ClinVar RCV003028883, Uncertain significance, Birt-Hogg-Dube syndrome
- G42A (p.Gly42Ala), TOPMed rs999239742, gnomAD rs999239742, Uncertain significance
- G42C (p.Gly42Cys), gnomAD rs1436126248, Uncertain significance
- G42D (p.Gly42Asp), rs999239742, ClinGen CA16615533, ClinVar RCV000474602, ClinVar RCV001010593, REVEL 0.30, CADD 15.30, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- G42R (p.Gly42Arg), rs1436126248, ClinGen CA398535280, ClinVar RCV000806975, ClinVar RCV001010539, REVEL 0.27, CADD 15.80, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- G42S (p.Gly42Ser), gnomAD rs1436126248, Uncertain significance
- E43* (p.Glu43Ter), rs1555611494, ClinGen CA398535274, ClinVar RCV000520626, ClinVar RCV002527611, Pathogenic
- E43D (p.Glu43Asp), rs760808366, ExAC rs760808366, TOPMed rs760808366, gnomAD rs760808366, REVEL 0.22, CADD 6.64, Conflicting interpretations, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- E43G (p.Glu43Gly), Ensembl rs2145045990, REVEL 0.39, CADD 23.10
- E43K (p.Glu43Lys), rs1555611494, ClinGen CA398535276, ClinVar RCV002376473, REVEL 0.44, CADD 22.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- E43Q (p.Glu43Gln), Ensembl rs1555611494, Pathogenic
- Q44* (p.Gln44Ter), Ensembl rs2145045849
- Q44E (p.Gln44Glu), Ensembl rs2145045849, REVEL 0.38, CADD 18.70
- Q44L (p.Gln44Leu), Ensembl rs2145045780
- Q44R (p.Gln44Arg), Ensembl rs2145045780
- A45E (p.Ala45Glu), rs556510460, ClinGen CA398535258, ClinVar RCV000791768, ClinVar RCV001011021, Uncertain significance, Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- A45G (p.Ala45Gly), rs556510460, ClinGen CA159761, ClinVar RCV000121099, ClinVar RCV000163762, REVEL 0.26, CADD 17.50, Conflicting interpretations, Birt-Hogg-Dube syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma
- A45P (p.Ala45Pro), Ensembl rs2145045694
- A45T (p.Ala45Thr), cosmic curated COSV53256, Ensembl rs2145045694
- A45V (p.Ala45Val), rs556510460, ClinGen CA8416512, NCI-TCGA Cosmic COSV5325, cosmic curated COSV53257, REVEL 0.37, CADD 14.90, Conflicting interpretations, Birt-Hogg-Dube syndrome; 17p11.2 microduplication syndrome; Colorectal cancer
- E46D (p.Glu46Asp), Ensembl rs1597617874, Uncertain significance, Birt-Hogg-Dube syndrome
- E46G (p.Glu46Gly), Ensembl rs2145045465
- E46K (p.Glu46Lys), NCI-TCGA Cosmic COSV9955, cosmic curated COSV99550, TOPMed rs2047308689, Uncertain significance, Hereditary cancer-predisposing syndrome
- E46Q (p.Glu46Gln), TOPMed rs2047308689
- E46V (p.Glu46Val), Ensembl rs2145045465
- E47D (p.Glu47Asp), Ensembl rs2145045292
- E47K (p.Glu47Lys), cosmic curated COSV99550, ESP rs369115472, TOPMed rs369115472, gnomAD rs369115472, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- E47Q (p.Glu47Gln), rs369115472, ClinGen CA196505, cosmic curated COSV53258, NCI-TCGA Cosmic COSV9955, REVEL 0.42, CADD 21.20, Conflicting interpretations, Birt-Hogg-Dube syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer
- E48Q (p.Glu48Gln), Ensembl rs2145045246
- E48V (p.Glu48Val), Ensembl rs2145045195, REVEL 0.58, CADD 24.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- E49D (p.Glu49Asp), gnomAD rs2047308403, REVEL 0.36, CADD 17.90, Likely benign
- E49G (p.Glu49Gly), Ensembl rs2145045027
- E49Q (p.Glu49Gln), Ensembl rs2145045089
- G50A (p.Gly50Ala), TOPMed rs1166116743, gnomAD rs1166116743, Uncertain significance
- G50D (p.Gly50Asp), rs1166116743, ClinGen CA398535223, ClinVar RCV000793095, ClinVar RCV004949905, REVEL 0.39, CADD 23.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome; Birt-Hogg-Dube
- G50R (p.Gly50Arg), Ensembl rs2145044896, Uncertain significance
- G50S (p.Gly50Ser), rs2145044896, ClinGen CA398535226, cosmic curated COSV53258, ClinVar RCV002389665, Uncertain significance, Hereditary cancer-predisposing syndrome
- G51A (p.Gly51Ala), Ensembl rs2145044590, Uncertain significance
- G51C (p.Gly51Cys), Ensembl rs2047308123, Uncertain significance
- G51D (p.Gly51Asp), rs2145044590, ClinGen CA398535217, ClinVar RCV002612812, Ensembl rs2145044590, Uncertain significance, Birt-Hogg-Dube syndrome
- G51S (p.Gly51Ser), rs2047308123, ClinGen CA398535218, ClinVar RCV001046857, Ensembl rs2047308123, Uncertain significance, Birt-Hogg-Dube syndrome
- G51V (p.Gly51Val), rs2145044590, ClinGen CA398535215, ClinVar RCV003360556, Ensembl rs2145044590, REVEL 0.65, CADD 21.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- I52F (p.Ile52Phe), Ensembl rs2047308054, Uncertain significance
- I52L (p.Ile52Leu), Ensembl rs2047308054, Uncertain significance
- I52N (p.Ile52Asn), Ensembl rs2145044470
- I52S (p.Ile52Ser), Ensembl rs2145044470
- I52T (p.Ile52Thr), Ensembl rs2145044470
Public FLCN analysis runs
- FLCN analysis run — FLCN (1,843 variants) — completed 2026-08-18