FBN2 (Fibrillin-2) variants and mutations
FBN2 (also known as Fibrillin-2) is a human protein-coding gene encoding a fibrillin-2 protein. It contributes to extracellular microfibrils that guide elastic-fiber formation and tissue organization during development. Heterozygous pathogenic variants cause congenital contractural arachnodactyly, characterized by long limbs and fingers, contractures, and characteristic ear abnormalities. This analysis covers 4,797 FBN2 variants and mutations. Of these, 62% have computational variant effect predictions. Disease context includes congenital contractural arachnodactyly, Abnormality of the skeletal system, and hypertensive disorder. Example FBN2 variants include M1?, G2A, and G2E.
Variant analysis overview
- Gene: FBN2
- Protein: Fibrillin-2
- UniProt accession: P35556
- Organism: Homo sapiens
- Variants analyzed: 4797
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 4,554 unspecified-consequence records; 126 synonymous variants; 105 missense variants; 6 frameshift variants; 4 in-frame deletions; 2 splice-region variants; 1 stop-gained variants; 2 substitution
- Prediction scores: 2,952 variants have prediction scores (62% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: congenital contractural arachnodactyly, Abnormality of the skeletal system, hypertensive disorder, age-related macular degeneration, essential hypertension, familial thoracic aortic aneurysm and aortic dissection, coronary artery disorder, potassium deficiency disease, heart failure, atrial fibrillation, Rare disease with thoracic aortic aneurysm and aortic dissection, alcohol drinking.
Protein structure and variant hotspots
- Protein features: 56 domains; 39 post-translational modification sites.
- Structural context: 3,773 variants have structural context.
- PTM context: 54 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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable FBN2 variants
Examples include M1?, G2A, G2E, G2R, G2W, R3I, R4G, R4K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV10457
- G2A (p.Gly2Ala), TOPMed rs976599275, gnomAD rs976599275, REVEL 0.48, CADD 23.20, Benign
- G2E (p.Gly2Glu), rs976599275, ClinGen CA127059361, ClinVar RCV001224738, TOPMed rs976599275, REVEL 0.48, CADD 23.50, Benign
- G2R (p.Gly2Arg), NCI-TCGA TCGA novel, REVEL 0.47, CADD 23.70, Variant assessed as somatic; moderate impact.
- G2W (p.Gly2Trp), ExAC rs770304941, TOPMed rs770304941, gnomAD rs770304941, REVEL 0.59, CADD 24.00
- R3I (p.Arg3Ile), NCI-TCGA Cosmic COSV9932, cosmic curated COSV99326, REVEL 0.41, CADD 22.30, Variant assessed as somatic; moderate impact.
- R4G (p.Arg4Gly), rs1167203759, ClinGen CA360763645, ClinVar RCV003831779, gnomAD rs1167203759, REVEL 0.37, CADD 22.00, Benign
- R4K (p.Arg4Lys), 1000Genomes rs2112811246, REVEL 0.21, CADD 14.80
- R5P (p.Arg5Pro), rs1194684025, ClinGen CA360763589, ClinVar RCV001758006, TOPMed rs1194684025, REVEL 0.47, CADD 28.10, Benign
- R5Q (p.Arg5Gln), rs1194684025, ClinGen CA360763592, ClinVar RCV001971821, TOPMed rs1194684025, REVEL 0.41, CADD 27.30, Benign
- R5W (p.Arg5Trp), cosmic curated COSV52513, gnomAD rs1390199301, REVEL 0.56, CADD 26.50
- R6K (p.Arg6Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R6S (p.Arg6Ser), rs758464000, ClinGen CA360763561, ClinVar RCV003027476, REVEL 0.52, CADD 21.70, Uncertain significance
- R6W (p.Arg6Trp), rs1421758738, ClinGen CA360763578, ClinVar RCV003526930, ClinVar RCV004783075, REVEL 0.46, CADD 23.50, Uncertain significance
- L7V (p.Leu7Val), ExAC rs747952690, TOPMed rs747952690, gnomAD rs747952690, REVEL 0.20, CADD 22.80
- C8F (p.Cys8Phe), Ensembl rs970099264, REVEL 0.28, CADD 23.90
- C8S (p.Cys8Ser), gnomAD rs1272430097, REVEL 0.16, CADD 19.80
- C8W (p.Cys8Trp), TOPMed rs1756892632, gnomAD rs1756892632, REVEL 0.43, CADD 25.00
- Q10H (p.Gln10His), rs2479828241, ClinGen CA360763432, ClinVar RCV003397756, Uncertain significance
- Q10R (p.Gln10Arg), rs547410742, ClinGen CA3396243, ClinVar RCV001066191, 1000Genomes rs547410742, REVEL 0.16, CADD 22.20, Uncertain significance
- Y12C (p.Tyr12Cys), cosmic curated COSV10806, REVEL 0.17, CADD 23.10
- Y12F (p.Tyr12Phe), ExAC rs753955682, TOPMed rs753955682, gnomAD rs753955682, REVEL 0.21, CADD 21.40
- Y12H (p.Tyr12His), NCI-TCGA TCGA novel, REVEL 0.33, CADD 23.10, Variant assessed as somatic; moderate impact.
- F13L (p.Phe13Leu), rs957639025, ClinGen CA127059276, ClinVar RCV001155267, TOPMed rs957639025, REVEL 0.15, CADD 22.60, Uncertain significance
- L14M (p.Leu14Met), cosmic curated COSV52523, REVEL 0.21, CADD 19.20
- L14P (p.Leu14Pro), cosmic curated COSV52532, REVEL 0.42, CADD 24.90
- L14R (p.Leu14Arg), rs2479828212, ClinGen CA360763326, ClinVar RCV004515806, Likely benign
- G17A (p.Gly17Ala), gnomAD rs1312249282, REVEL 0.21, CADD 18.50
- G17C (p.Gly17Cys), TOPMed rs1085307788, gnomAD rs1085307788, REVEL 0.49, CADD 23.70, Likely benign
- G17S (p.Gly17Ser), rs1085307788, ClinGen CA360763286, ClinVar RCV000489370, ClinVar RCV002527031, REVEL 0.15, CADD 22.10, Likely benign
- G17V (p.Gly17Val), gnomAD rs1312249282
- C18S (p.Cys18Ser), rs1033004512, ClinGen CA127059272, ClinVar RCV001936347, ClinVar RCV005622142, REVEL 0.52, CADD 22.60, Uncertain significance
- V19L (p.Val19Leu), TOPMed rs1357709072, gnomAD rs1357709072, Uncertain significance
- V19M (p.Val19Met), rs1357709072, ClinGen CA360763244, ClinVar RCV001995419, TOPMed rs1357709072, REVEL 0.33, CADD 21.90, Likely benign
- V20L (p.Val20Leu), rs756126862, ClinGen CA360763223, ClinVar RCV000513166, ExAC rs756126862, AlphaMissense 0.09, MetaLR 0.36, Uncertain significance
- V20M (p.Val20Met), ExAC rs756126862, gnomAD rs756126862, REVEL 0.23, AlphaMissense 0.09, Uncertain significance
- L21F (p.Leu21Phe), rs201321678, ClinGen CA3396239, ClinVar RCV001230553, 1000Genomes rs201321678, REVEL 0.17, CADD 23.20, Benign
- L21P (p.Leu21Pro), TOPMed rs1756891246, REVEL 0.52, CADD 24.80
- L21R (p.Leu21Arg), TOPMed rs1756891246
- W22C (p.Trp22Cys), ExAC rs768008045, gnomAD rs768008045, REVEL 0.30, CADD 24.80
- W22R (p.Trp22Arg), TOPMed rs1169187102, gnomAD rs1169187102, REVEL 0.56, CADD 25.50
- W22S (p.Trp22Ser), Ensembl rs1011644405
- A23E (p.Ala23Glu), rs199560824, ClinGen CA360763165, ClinVar RCV001343389, ESP rs199560824, REVEL 0.21, CADD 22.60, Likely benign
- A23G (p.Ala23Gly), rs199560824, ClinGen CA323989, ClinVar RCV000294775, ClinVar RCV001721270, REVEL 0.14, CADD 22.90, Likely benign
- A23P (p.Ala23Pro), rs893243344, ClinGen CA127059254, ClinVar RCV000819716, TOPMed rs893243344, REVEL 0.43, CADD 24.00, Benign
- A23S (p.Ala23Ser), TOPMed rs893243344, gnomAD rs893243344, REVEL 0.15, CADD 23.40, Benign
- A23T (p.Ala23Thr), rs893243344, ClinGen CA127059259, ClinVar RCV003441605, TOPMed rs893243344, REVEL 0.20, CADD 23.80, Benign
- A23V (p.Ala23Val), cosmic curated COSV10728, ESP rs199560824, ExAC rs199560824, TOPMed rs199560824, REVEL 0.17, CADD 20.50, Likely benign
- Q24H (p.Gln24His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q24L (p.Gln24Leu), ExAC rs764396688, gnomAD rs764396688, REVEL 0.22, CADD 20.80, Uncertain significance
- Q24P (p.Gln24Pro), ExAC rs764396688, gnomAD rs764396688, REVEL 0.41, CADD 22.20, Uncertain significance
- Q24R (p.Gln24Arg), rs764396688, ClinGen CA16604804, ClinVar RCV000437477, ExAC rs764396688, REVEL 0.14, CADD 20.20, Uncertain significance
- G25D (p.Gly25Asp), rs2112811070, ClinGen CA360763093, cosmic curated COSV10806, ClinVar RCV001363529, REVEL 0.41, CADD 24.10, Uncertain significance
- G25S (p.Gly25Ser), rs763408652, ClinGen CA3396235, ClinVar RCV000690148, ClinVar RCV002477551, REVEL 0.27, CADD 22.50, Benign
- T26A (p.Thr26Ala), rs374922166, ClinGen CA322091, ClinVar RCV000726832, ClinVar RCV001083543, REVEL 0.14, CADD 19.80, Benign
- T26M (p.Thr26Met), cosmic curated COSV52499, gnomAD rs1354275606, REVEL 0.24, CADD 23.20
- A27D (p.Ala27Asp), rs1188867955, ClinGen CA360763046, ClinVar RCV003527129, ClinVar RCV006262841, REVEL 0.17, CADD 22.70, Uncertain significance
- A27T (p.Ala27Thr), NCI-TCGA Cosmic COSV9932, cosmic curated COSV99325, Variant assessed as somatic; moderate impact.
- A27V (p.Ala27Val), rs1188867955, ClinGen CA360763050, ClinVar RCV003641260, TOPMed rs1188867955, REVEL 0.16, CADD 22.70, Uncertain significance
- G28A (p.Gly28Ala), TOPMed rs1040280257, gnomAD rs1040280257, REVEL 0.24, CADD 20.00, Uncertain significance
- G28C (p.Gly28Cys), rs772841538, ClinGen CA3396233, ClinVar RCV001769185, ClinVar RCV001868585, REVEL 0.36, CADD 21.70, Benign
- G28D (p.Gly28Asp), rs1040280257, ClinGen CA127059171, ClinVar RCV003951576, TOPMed rs1040280257, REVEL 0.38, CADD 22.90, Uncertain significance
- G28R (p.Gly28Arg), rs772841538, ClinGen CA360763033, ClinVar RCV001154433, ExAC rs772841538, REVEL 0.36, CADD 17.00, Benign
- G28S (p.Gly28Ser), NCI-TCGA TCGA novel, REVEL 0.14, CADD 14.30, Variant assessed as somatic; moderate impact.
- Q29P (p.Gln29Pro), rs771712321, ClinGen CA3396232, ClinVar RCV001303765, ClinVar RCV004036288, REVEL 0.47, CADD 24.20, Benign
- Q29R (p.Gln29Arg), cosmic curated COSV10457
- P30L (p.Pro30Leu), rs748040483, ClinGen CA3396231, ClinVar RCV002614537, ExAC rs748040483, REVEL 0.18, CADD 22.50, Likely benign
- Q31* (p.Gln31Ter), rs2479828044, ClinGen CA360762952, ClinVar RCV002289363, Likely pathogenic
- Q31H (p.Gln31His), rs371491169, ClinGen CA360762942, ClinVar RCV000684895, 1000Genomes rs371491169, REVEL 0.22, CADD 16.80, Likely benign
- Q31P (p.Gln31Pro), Ensembl rs1561505081, REVEL 0.28, CADD 22.30
- P32L (p.Pro32Leu), 1000Genomes rs749158374, ExAC rs749158374, TOPMed rs749158374, gnomAD rs749158374, REVEL 0.32, CADD 22.60
- P32S (p.Pro32Ser), gnomAD rs1163494935, REVEL 0.31, CADD 19.60
- P32T (p.Pro32Thr), gnomAD rs1163494935, REVEL 0.35, CADD 18.20
- P33L (p.Pro33Leu), Ensembl rs943309521, REVEL 0.18, CADD 19.70
- P34L (p.Pro34Leu), rs368006487, ClinGen CA3396225, ClinVar RCV002276444, ClinVar RCV006629344, REVEL 0.21, CADD 22.50, Likely benign
- P34S (p.Pro34Ser), ExAC rs756426601, gnomAD rs756426601, REVEL 0.21, CADD 21.70
- P34T (p.Pro34Thr), ExAC rs756426601, gnomAD rs756426601, REVEL 0.22, CADD 20.90
- P35L (p.Pro35Leu), rs2112810970, ClinGen CA360762857, ClinVar RCV001942935, Ensembl rs2112810970, AlphaMissense 0.09, MetaLR 0.26, Uncertain significance
- K36E (p.Lys36Glu), ExAC rs767531338, TOPMed rs767531338, gnomAD rs767531338, REVEL 0.22, CADD 21.70
- K36N (p.Lys36Asn), gnomAD rs1196610611
- K36Q (p.Lys36Gln), ExAC rs767531338, TOPMed rs767531338, gnomAD rs767531338, REVEL 0.21, CADD 22.10
- K36R (p.Lys36Arg), rs1431387329, ClinGen CA360762840, cosmic curated COSV52512, ClinVar RCV002424171, REVEL 0.21, CADD 21.90, Uncertain significance
- P37Q (p.Pro37Gln), rs201255083, ClinGen CA238729, ClinVar RCV000197074, ClinVar RCV000389183, REVEL 0.13, CADD 20.10, Benign
- P37S (p.Pro37Ser), gnomAD rs1449939087, REVEL 0.13, CADD 19.60
- P38S (p.Pro38Ser), rs972857604, ClinGen CA127059067, ClinVar RCV002585253, TOPMed rs972857604, REVEL 0.21, CADD 18.00, Uncertain significance
- R39G (p.Arg39Gly), rs763202121, ClinGen CA16618113, ClinVar RCV000480894, ClinVar RCV002525965, REVEL 0.32, CADD 20.50, Likely benign
- R39L (p.Arg39Leu), ExAC rs753160272, gnomAD rs753160272, REVEL 0.24, CADD 19.50
- R39P (p.Arg39Pro), rs753160272, ClinGen CA360762737, ClinVar RCV002330019, REVEL 0.51, CADD 20.90, Uncertain significance
- R39Q (p.Arg39Gln), rs753160272, cosmic curated COSV10586, ExAC rs753160272, gnomAD rs753160272, REVEL 0.15, CADD 19.30, Variant assessed as somatic; moderate impact.
- P40L (p.Pro40Leu), ExAC rs760308666, gnomAD rs760308666, REVEL 0.25, CADD 23.20
- P40S (p.Pro40Ser), rs2112810915, ClinGen CA360762723, ClinVar RCV001920480, Ensembl rs2112810915, AlphaMissense 0.07, MetaLR 0.31, Uncertain significance
- Q41E (p.Gln41Glu), gnomAD rs961558125
- Q41P (p.Gln41Pro), cosmic curated COSV52528
- P42L (p.Pro42Leu), rs773011327, ClinGen CA324396, ClinVar RCV000199848, ClinVar RCV000541110, REVEL 0.27, CADD 20.40, Likely benign
- P42T (p.Pro42Thr), TOPMed rs1756886852, REVEL 0.18, CADD 18.70
- P43A (p.Pro43Ala), Ensembl rs1756886621
- P44L (p.Pro44Leu), cosmic curated COSV99331, gnomAD rs1386059797, REVEL 0.23, CADD 14.50
- Q45L (p.Gln45Leu), rs774411616, ClinGen CA360762605, ClinVar RCV002049955, 1000Genomes rs774411616, AlphaMissense 0.11, MetaLR 0.26, Benign
- Q45P (p.Gln45Pro), rs774411616, ClinGen CA3396216, ClinVar RCV003872917, 1000Genomes rs774411616, REVEL 0.17, AlphaMissense 0.11, Benign
- V47F (p.Val47Phe), rs2112810860, ClinGen CA360762545, ClinVar RCV001354842, Ensembl rs2112810860, AlphaMissense 0.08, MetaLR 0.32, Uncertain significance
- R48L (p.Arg48Leu), rs779831723, ClinGen CA3396213, ClinVar RCV002278025, ClinVar RCV002278026, REVEL 0.34, CADD 22.10, Benign
- R48Q (p.Arg48Gln), ExAC rs779831723, TOPMed rs779831723, gnomAD rs779831723, REVEL 0.27, CADD 21.40, Likely benign
- R48W (p.Arg48Trp), TOPMed rs1409799200, gnomAD rs1409799200, REVEL 0.38, CADD 23.60, Likely benign
- S49F (p.Ser49Phe), ExAC rs746057905, gnomAD rs746057905, REVEL 0.19, CADD 21.40
- S49P (p.Ser49Pro), ExAC rs769493727, gnomAD rs769493727, REVEL 0.22, CADD 18.80
- A50S (p.Ala50Ser), cosmic curated COSV52544, gnomAD rs1469843755, REVEL 0.29, CADD 19.60
- A50T (p.Ala50Thr), gnomAD rs1469843755, REVEL 0.31, CADD 20.90
- T51R (p.Thr51Arg), rs1060503509, ClinGen CA16611911, ClinVar RCV000458920, ClinVar RCV004546500, REVEL 0.07, CADD 4.91, Uncertain significance
- A52S (p.Ala52Ser), NCI-TCGA TCGA novel, REVEL 0.15, CADD 10.50, Variant assessed as somatic; moderate impact.
- G53A (p.Gly53Ala), 1000Genomes rs375093230, ESP rs375093230, ExAC rs375093230, TOPMed rs375093230, REVEL 0.19, CADD 16.10, Benign
- G53D (p.Gly53Asp), rs375093230, ClinGen CA206333, ClinVar RCV000193087, ClinVar RCV001852556, REVEL 0.73, CADD 18.40, Benign
- G53S (p.Gly53Ser), rs146807421, ClinGen CA324262, ClinVar RCV000199714, ClinVar RCV000555367, REVEL 0.25, CADD 18.50, Benign
- S54F (p.Ser54Phe), rs1357307403, ClinGen CA360762406, ClinVar RCV003852063, TOPMed rs1357307403, AlphaMissense 0.12, MetaLR 0.34, Uncertain significance
- S54P (p.Ser54Pro), cosmic curated COSV99329
- S54T (p.Ser54Thr), cosmic curated COSV10806, Ensembl rs1756885112, REVEL 0.18, CADD 17.90
- G56C (p.Gly56Cys), gnomAD rs1286855209, REVEL 0.39, CADD 23.00
- G56S (p.Gly56Ser), cosmic curated COSV10510, gnomAD rs1286855209, REVEL 0.26, CADD 19.60
- G57R (p.Gly57Arg), Ensembl rs2112810796, Uncertain significance
- G57W (p.Gly57Trp), rs2112810796, ClinGen CA360762347, ClinVar RCV001880643, Ensembl rs2112810796, REVEL 0.42, CADD 22.90, Uncertain significance
- L59P (p.Leu59Pro), ESP rs143710539, ExAC rs143710539, TOPMed rs143710539, gnomAD rs143710539, REVEL 0.20, CADD 14.00
- L59R (p.Leu59Arg), ESP rs143710539, ExAC rs143710539, TOPMed rs143710539, gnomAD rs143710539, REVEL 0.20, CADD 12.20
- P61L (p.Pro61Leu), 1000Genomes rs200722548, ExAC rs200722548, TOPMed rs200722548, gnomAD rs200722548, REVEL 0.26, CADD 18.50
- P61S (p.Pro61Ser), Ensembl rs1756884760, REVEL 0.14, CADD 14.10
- Y63C (p.Tyr63Cys), TOPMed rs760014472
- Y63D (p.Tyr63Asp), Ensembl rs1756884433
- Y63F (p.Tyr63Phe), TOPMed rs760014472, REVEL 0.11, CADD 14.20
- R64C (p.Arg64Cys), NCI-TCGA Cosmic COSV9933, cosmic curated COSV99330, REVEL 0.44, CADD 21.20, Variant assessed as somatic; moderate impact.
- R64L (p.Arg64Leu), cosmic curated COSV52538, ESP rs371162767, TOPMed rs371162767, gnomAD rs371162767, REVEL 0.16, CADD 15.20
- E65D (p.Glu65Asp), ExAC rs750055830, TOPMed rs750055830, gnomAD rs750055830, REVEL 0.16, CADD 17.30, Likely benign
- E65K (p.Glu65Lys), NCI-TCGA Cosmic COSV5255, cosmic curated COSV52551, Variant assessed as somatic; moderate impact.
- E65Q (p.Glu65Gln), rs1561504900, ClinGen CA360762161, ClinVar RCV000689249, Ensembl rs1561504900, REVEL 0.23, CADD 20.00, Uncertain significance
- E66A (p.Glu66Ala), gnomAD rs1756883847, REVEL 0.17, CADD 21.50
- E66K (p.Glu66Lys), cosmic curated COSV10457, Ensembl rs1756883908
- G67R (p.Gly67Arg), Ensembl rs1225794373
- G67V (p.Gly67Val), TOPMed rs1756883643, REVEL 0.35, CADD 22.50
- A68G (p.Ala68Gly), 1000Genomes rs62390671, ESP rs62390671, ExAC rs62390671, TOPMed rs62390671, Benign
- A68S (p.Ala68Ser), rs767317022, ClinGen CA320907, ClinVar RCV000196494, ClinVar RCV001853141, REVEL 0.11, CADD 14.30, Likely benign
- A68V (p.Ala68Val), rs62390671, ClinGen CA285509, ClinVar RCV000079963, ClinVar RCV000383512, REVEL 0.17, CADD 19.30, Benign
- A69T (p.Ala69Thr), rs1204905357, NCI-TCGA Cosmic COSV5254, cosmic curated COSV52549, Ensembl rs1204905357, REVEL 0.07, CADD 17.10, Variant assessed as somatic; moderate impact.
- A69V (p.Ala69Val), rs1756883252, ClinGen CA360762054, ClinVar RCV001911185, NCI-TCGA TCGA novel, AlphaMissense 0.09, MetaLR 0.40, Uncertain significance
- V70A (p.Val70Ala), rs144149249, ClinGen CA3396203, ClinVar RCV000756150, ClinVar RCV001404545, REVEL 0.08, AlphaMissense 0.05, Likely benign
- V70E (p.Val70Glu), rs144149249, ClinGen CA360762038, ClinVar RCV002932705, AlphaMissense 0.05, MetaLR 0.24, Uncertain significance
- V70L (p.Val70Leu), rs1756883199, ClinGen CA360762048, ClinVar RCV001309796, Ensembl rs1756883199, AlphaMissense 0.09, MetaLR 0.29, Uncertain significance
- A71G (p.Ala71Gly), rs2479827501, ClinGen CA360762025, ClinVar RCV003641793, REVEL 0.16, CADD 23.80, Uncertain significance
- S72R (p.Ser72Arg), gnomAD rs1187992233, REVEL 0.21, CADD 17.50, Likely benign
- S72T (p.Ser72Thr), gnomAD rs1388339879, REVEL 0.20, CADD 20.20
- R73H (p.Arg73His), ExAC rs775317100, TOPMed rs775317100, gnomAD rs775317100, REVEL 0.41, CADD 24.90
- R73S (p.Arg73Ser), rs148493036, ClinGen CA323258, ClinVar RCV000198722, ClinVar RCV001484140, REVEL 0.57, CADD 27.80, Likely benign
- V74I (p.Val74Ile), rs779812100, ClinGen CA3396201, cosmic curated COSV52510, ClinVar RCV001320094, REVEL 0.26, CADD 23.40, Likely benign
- R75P (p.Arg75Pro), TOPMed rs1756882487, REVEL 0.58, CADD 25.20
- R76G (p.Arg76Gly), gnomAD rs1281702361, REVEL 0.59, CADD 23.20
- R76Q (p.Arg76Gln), gnomAD rs1213558546, REVEL 0.49, CADD 30.00
- R76W (p.Arg76Trp), cosmic curated COSV99329, gnomAD rs1281702361, REVEL 0.63, CADD 25.30
- R77* (p.Arg77Ter), NCI-TCGA Cosmic COSV9933, Variant assessed as somatic; high impact.
- R77L (p.Arg77Leu), rs889066564, ClinGen CA127058837, ClinVar RCV000805936, TOPMed rs889066564, REVEL 0.52, CADD 27.50, Uncertain significance
- R77Q (p.Arg77Gln), TOPMed rs889066564, gnomAD rs889066564, REVEL 0.48, CADD 27.20, Uncertain significance
- G78R (p.Gly78Arg), TOPMed rs1469224204, gnomAD rs1469224204, REVEL 0.52, CADD 29.00
- Q80E (p.Gln80Glu), NCI-TCGA Cosmic COSV5254, cosmic curated COSV52540, REVEL 0.24, CADD 22.30, Variant assessed as somatic; moderate impact.
- Q80K (p.Gln80Lys), TOPMed rs1756881936, REVEL 0.27, CADD 22.60
- Q80R (p.Gln80Arg), rs2479827419, ClinGen CA360761836, ClinVar RCV003642193, Uncertain significance
- D81E (p.Asp81Glu), TOPMed rs1048690556, gnomAD rs1048690556, REVEL 0.10, CADD 14.40, Uncertain significance
- D81N (p.Asp81Asn), 1000Genomes rs570260689, ExAC rs570260689, gnomAD rs570260689, REVEL 0.22, CADD 23.40
- D81V (p.Asp81Val), gnomAD rs1273354021, REVEL 0.55, CADD 25.90
- V82A (p.Val82Ala), TOPMed rs1235527803, gnomAD rs1235527803, REVEL 0.17, CADD 21.90, Uncertain significance
- V82E (p.Val82Glu), TOPMed rs1235527803, gnomAD rs1235527803, REVEL 0.47, CADD 23.70, Uncertain significance
- V82G (p.Val82Gly), rs1235527803, ClinGen CA360761797, ClinVar RCV003110084, TOPMed rs1235527803, REVEL 0.48, CADD 23.80, Uncertain significance
- V82L (p.Val82Leu), 1000Genomes rs550387143, ExAC rs550387143, TOPMed rs550387143, gnomAD rs550387143, REVEL 0.10, CADD 16.60, Benign
- V82M (p.Val82Met), rs550387143, ClinGen CA3396199, ClinVar RCV002311175, ClinVar RCV002518726, REVEL 0.23, CADD 21.80, Benign
- L83P (p.Leu83Pro), rs1756881331, ClinGen CA360761785, ClinVar RCV002430920, TOPMed rs1756881331, REVEL 0.69, CADD 30.00, Uncertain significance
- R84P (p.Arg84Pro), rs747084358, ClinGen CA127058791, ClinVar RCV003077262, ExAC rs747084358, REVEL 0.65, CADD 28.40, Benign
- R84Q (p.Arg84Gln), rs747084358, ClinGen CA3396197, cosmic curated COSV52511, ClinVar RCV001342953, REVEL 0.43, CADD 23.60, Benign
- G85=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- G85R (p.Gly85Arg), Ensembl rs1561504792, REVEL 0.76, CADD 32.00
- P86R (p.Pro86Arg), rs749819006, ClinGen CA3396168, ClinVar RCV000552082, ClinVar RCV001770413, REVEL 0.80, CADD 31.00, Uncertain significance
- P86S (p.Pro86Ser), rs2479825738, ClinGen CA360761537, ClinVar RCV002690969, REVEL 0.72, CADD 33.00, Uncertain significance
- N87D (p.Asn87Asp), rs756569459, ClinGen CA360761534, ClinVar RCV002006310, ExAC rs756569459, REVEL 0.66, CADD 28.70, Uncertain significance
- N87H (p.Asn87His), ExAC rs756569459, gnomAD rs756569459, REVEL 0.69, CADD 25.00, Uncertain significance
- N87K (p.Asn87Lys), ExAC rs751221654, TOPMed rs751221654, gnomAD rs751221654, Likely benign
- N87S (p.Asn87Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V88L (p.Val88Leu), rs1220181392, ClinGen CA360761526, ClinVar RCV002927515, REVEL 0.68, CADD 28.10, Uncertain significance
Public FBN2 analysis runs
- FBN2 analysis run — FBN2 (4,797 variants) — completed 2026-08-22