DNAH5 (Dynein axonemal heavy chain 5) variants and mutations
DNAH5 (also known as Dynein axonemal heavy chain 5) is a human protein-coding gene encoding a dynein axonemal heavy chain 5 protein. A motor protein in motile cilia that helps generate the force needed for ciliary beating. Pathogenic variants can cause primary ciliary dyskinesia, with chronic respiratory symptoms and sometimes altered organ laterality. This analysis covers 6,727 DNAH5 variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes primary ciliary dyskinesia, Heterotaxy, and hereditary disease. Example DNAH5 variants include I4T, I4V, and R6G.
Variant analysis overview
- Gene: DNAH5
- Protein: Dynein axonemal heavy chain 5
- UniProt accession: Q8TE73
- Organism: Homo sapiens
- Variants analyzed: 6727
- Variant scope: all variants
- Completed: 2026-08-29
Variant and mutation evidence
- Variant composition: 6,493 unspecified-consequence records; 1 stop lost; 103 synonymous variants; 97 missense variants; 20 frameshift variants; 7 stop-gained variants; 3 in-frame deletions; 2 splice-region variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 6,090 variants have prediction scores (91% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: primary ciliary dyskinesia, Heterotaxy, hereditary disease, bronchiectasis, alcohol drinking, situs inversus, infertility disorder, glycine encephalopathy 1, male infertility, Kartagener Syndrome, sign or symptom, urolithiasis.
Protein structure and variant hotspots
- Protein features: 2 binding 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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to DNAH5
Notable DNAH5 variants
Examples include I4T, I4V, R6G, R6S, R7*, R7K, Q8K, W10*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- I4T (p.Ile4Thr), rs765239163, ClinGen CA3205313, ClinVar RCV003539071, ExAC rs765239163, REVEL 0.03, MetaLR 0.02, Likely benign, Primary ciliary dyskinesia
- I4V (p.Ile4Val), TOPMed rs1310540453, gnomAD rs1310540453, REVEL 0.02, MetaLR 0.03
- R6G (p.Arg6Gly), gnomAD rs1486337189, REVEL 0.14, MetaLR 0.11
- R6S (p.Arg6Ser), TOPMed rs1779748267
- R7* (p.Arg7Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R7K (p.Arg7Lys), rs139728564, ClinGen CA3205312, ClinVar RCV000475406, ESP rs139728564, REVEL 0.03, MetaLR 0.04, Likely benign
- Q8K (p.Gln8Lys), ExAC rs776523132, TOPMed rs776523132, gnomAD rs776523132, REVEL 0.07, MetaLR 0.04, Uncertain significance, Primary ciliary dyskinesia
- W10* (p.Trp10Ter), NCI-TCGA Cosmic COSV5421, Variant assessed as somatic; high impact.
- W10R (p.Trp10Arg), Ensembl rs112924998, MetaLR 0.10, MetaSVM -1.08
- H12Q (p.His12Gln), rs339445, ClinGen CA182954, ClinVar RCV000155520, ClinVar RCV000303227, REVEL 0.09, MetaLR 0.00, Benign
- H12Y (p.His12Tyr), gnomAD rs1351006023
- S13N (p.Ser13Asn), rs747161968, ClinGen CA3205310, ClinVar RCV002948362, ExAC rs747161968, REVEL 0.13, MetaLR 0.14, Benign, Primary ciliary dyskinesia
- V14A (p.Val14Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V14F (p.Val14Phe), rs1015850611, ClinGen CA359189848, ClinVar RCV002323334, TOPMed rs1015850611, REVEL 0.06, MetaLR 0.05, Conflicting interpretations, Primary ciliary dyskinesia
- V14I (p.Val14Ile), rs1015850611, ClinGen CA113933395, ClinVar RCV001154438, ClinVar RCV002558337, REVEL 0.04, MetaLR 0.04, Conflicting interpretations, Primary ciliary dyskinesia; Primary ciliary dyskinesia 3
- V14L (p.Val14Leu), TOPMed rs1015850611, gnomAD rs1015850611, Benign
- T15S (p.Thr15Ser), TOPMed rs1416567709, gnomAD rs1416567709, REVEL 0.02, MetaLR 0.05
- R16* (p.Arg16Ter), rs772230378, ClinGen CA3205308, ClinVar RCV000810523, ClinVar RCV002507409, CADD 38.00, Likely pathogenic
- R16G (p.Arg16Gly), NCI-TCGA TCGA novel, REVEL 0.07, MetaLR 0.06, Variant assessed as somatic; moderate impact.
- R16P (p.Arg16Pro), ExAC rs778890170, TOPMed rs778890170, gnomAD rs778890170, REVEL 0.12, MetaLR 0.05, Likely benign
- R16Q (p.Arg16Gln), rs778890170, ClinGen CA3205306, ClinVar RCV003066881, ExAC rs778890170, REVEL 0.07, MetaLR 0.06, Conflicting interpretations, Primary ciliary dyskinesia
- T19K (p.Thr19Lys), ExAC rs757712771, TOPMed rs757712771, gnomAD rs757712771, REVEL 0.10, MetaLR 0.03, Uncertain significance
- T19M (p.Thr19Met), rs757712771, ClinGen CA3205305, ClinVar RCV000553255, ClinVar RCV001154437, REVEL 0.04, MetaLR 0.05, Uncertain significance
- Q20L (p.Gln20Leu), NCI-TCGA Cosmic COSV9945, MetaLR 0.08, MetaSVM -1.05, Variant assessed as somatic; moderate impact.
- Q20P (p.Gln20Pro), TOPMed rs1778386292, gnomAD rs1778386292, REVEL 0.13, MetaLR 0.11
- R21S (p.Arg21Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K23R (p.Lys23Arg), rs1190528830, ClinGen CA359230507, ClinVar RCV003650315, gnomAD rs1190528830, REVEL 0.09, MetaLR 0.05, Likely benign, Primary ciliary dyskinesia
- G24A (p.Gly24Ala), 1000Genomes rs1530496, ESP rs1530496, ExAC rs1530496, TOPMed rs1530496, Benign
- G24E (p.Gly24Glu), rs1530496, ClinGen CA175811, ClinVar RCV000150490, ClinVar RCV000347580, REVEL 0.15, MetaLR 0.00, Benign
- G24R (p.Gly24Arg), Ensembl rs267600377
- K26N (p.Lys26Asn), TOPMed rs1778383560, gnomAD rs1778383560, REVEL 0.17, MetaLR 0.10
- K26R (p.Lys26Arg), ExAC rs781443956, gnomAD rs781443956, REVEL 0.07, MetaLR 0.03
- E27K (p.Glu27Lys), NCI-TCGA Cosmic COSV5423, Variant assessed as somatic; moderate impact.
- A28S (p.Ala28Ser), TOPMed rs1778383192, MetaLR 0.08, MetaSVM -1.09
- R30Q (p.Arg30Gln), Ensembl rs2152008994, REVEL 0.11, MetaLR 0.07
- R30W (p.Arg30Trp), rs114220185, ClinGen CA350348, ClinVar RCV000206301, ClinVar RCV000242149, REVEL 0.28, MetaLR 0.15, Benign
- A31T (p.Ala31Thr), gnomAD rs1467083511, REVEL 0.11, MetaLR 0.08
- A31V (p.Ala31Val), NCI-TCGA Cosmic COSV5421, MetaLR 0.09, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- L32H (p.Leu32His), Ensembl rs1778381243, REVEL 0.02, MetaLR 0.02
- L32V (p.Leu32Val), TOPMed rs1778381622
- D34N (p.Asp34Asn), rs1215107095, ClinGen CA359230270, ClinVar RCV000695860, TOPMed rs1215107095, REVEL 0.28, MetaLR 0.19, Likely benign
- A35E (p.Ala35Glu), ESP rs371414060, ExAC rs371414060, TOPMed rs371414060, gnomAD rs371414060, REVEL 0.06, MetaLR 0.04, Uncertain significance
- A35S (p.Ala35Ser), 1000Genomes rs528860972, ExAC rs528860972, gnomAD rs528860972, REVEL 0.06, MetaLR 0.03
- A35T (p.Ala35Thr), 1000Genomes rs528860972, ExAC rs528860972, gnomAD rs528860972, REVEL 0.04, MetaLR 0.04
- A35V (p.Ala35Val), rs371414060, ClinGen CA3205282, ClinVar RCV002394888, ESP rs371414060, REVEL 0.07, MetaLR 0.04, Conflicting interpretations, Primary ciliary dyskinesia
- R36M (p.Arg36Met), Ensembl rs2152008938, MetaLR 0.15, MetaSVM -0.71
- N38S (p.Asn38Ser), rs1163468590, ClinGen CA359230197, ClinVar RCV001350026, TOPMed rs1163468590, REVEL 0.12, MetaLR 0.03, Uncertain significance, Primary ciliary dyskinesia
- N38T (p.Asn38Thr), NCI-TCGA TCGA novel, MetaLR 0.03, MetaSVM -1.08, Variant assessed as somatic; moderate impact.
- Y39C (p.Tyr39Cys), rs1469239990, ClinGen CA359230170, ClinVar RCV001056809, TOPMed rs1469239990, REVEL 0.45, MetaLR 0.11, Uncertain significance, Primary ciliary dyskinesia
- L40* (p.Leu40Ter), gnomAD rs996206105, CADD 37.00
- F41L (p.Phe41Leu), rs149569720, ClinGen CA3205279, ClinVar RCV003650168, ESP rs149569720, REVEL 0.04, MetaLR 0.03, Likely benign, Primary ciliary dyskinesia
- A42V (p.Ala42Val), ExAC rs752487711, gnomAD rs752487711, REVEL 0.05, MetaLR 0.06
- I43T (p.Ile43Thr), rs767228474, ClinGen CA3205277, ClinVar RCV000695611, ClinVar RCV003148831, REVEL 0.07, MetaLR 0.04, Uncertain significance
- A45T (p.Ala45Thr), TOPMed rs1382956575, gnomAD rs1382956575, REVEL 0.18, MetaLR 0.16
- S46F (p.Ser46Phe), NCI-TCGA TCGA novel, MetaLR 0.07, MetaSVM -1.02, Variant assessed as somatic; moderate impact.
- C47* (p.Cys47Ter), rs2547182728, ClinGen CA359230001, ClinVar RCV002309359, Likely pathogenic
- C47S (p.Cys47Ser), ESP rs374796461, ExAC rs374796461, gnomAD rs374796461, REVEL 0.12, MetaLR 0.06
- C47Y (p.Cys47Tyr), ESP rs374796461, ExAC rs374796461, gnomAD rs374796461, REVEL 0.17, MetaLR 0.05
- L50P (p.Leu50Pro), ExAC rs762995990, gnomAD rs762995990
- E54K (p.Glu54Lys), rs866784113, NCI-TCGA Cosmic COSV5420, gnomAD rs866784113, REVEL 0.13, MetaLR 0.07, Variant assessed as somatic; moderate impact.
- V55M (p.Val55Met), TOPMed rs1778371267, gnomAD rs1778371267, REVEL 0.19, MetaLR 0.18
- E56D (p.Glu56Asp), rs887537972, TOPMed rs887537972, gnomAD rs887537972, REVEL 0.18, MetaLR 0.10, Variant assessed as somatic; moderate impact.
- D57E (p.Asp57Glu), TOPMed rs1329352324, gnomAD rs1329352324, REVEL 0.11, MetaLR 0.03
- D57G (p.Asp57Gly), gnomAD rs1047218300, REVEL 0.17, MetaLR 0.11
- A58D (p.Ala58Asp), rs139252148, ClinGen CA3205269, ClinVar RCV003838277, ESP rs139252148, REVEL 0.19, MetaLR 0.08, Likely benign, Primary ciliary dyskinesia
- A58T (p.Ala58Thr), rs770299088, ClinGen CA3205270, ClinVar RCV003841539, ExAC rs770299088, REVEL 0.09, MetaLR 0.07, Likely benign, Primary ciliary dyskinesia
- L60F (p.Leu60Phe), gnomAD rs1245941852
- G62V (p.Gly62Val), gnomAD rs1778369249, REVEL 0.20, MetaLR 0.09
- Q64=, NCI-TCGA Cosmic COSV5423, Variant assessed as somatic; low impact.
- Q64E (p.Gln64Glu), ExAC rs781567141, TOPMed rs781567141, gnomAD rs781567141, REVEL 0.18, MetaLR 0.06
- I65F (p.Ile65Phe), rs776039504, ClinGen CA3205249, ClinVar RCV002413151, ExAC rs776039504, REVEL 0.11, MetaLR 0.05, Uncertain significance, Primary ciliary dyskinesia
- I65T (p.Ile65Thr), gnomAD rs1311882861, REVEL 0.13, MetaLR 0.08
- E66K (p.Glu66Lys), NCI-TCGA Cosmic COSV5423, Ensembl rs2152004324, Variant assessed as somatic; moderate impact.
- R67I (p.Arg67Ile), rs563017861, ClinGen CA3205248, NCI-TCGA Cosmic COSV5422, NCI-TCGA Cosmic COSV5425, REVEL 0.08, MetaLR 0.05, Likely benign, Primary ciliary dyskinesia
- R67K (p.Arg67Lys), NCI-TCGA Cosmic COSV5422, NCI-TCGA Cosmic COSV5425, MetaLR 0.06, MetaSVM -1.08, Variant assessed as somatic; moderate impact.
- I68V (p.Ile68Val), ExAC rs748958538, TOPMed rs748958538, gnomAD rs748958538, REVEL 0.05, MetaLR 0.06
- D69E (p.Asp69Glu), rs777266031, ClinGen CA3205246, ClinVar RCV002158088, ExAC rs777266031, REVEL 0.12, MetaLR 0.04, Conflicting interpretations, Primary ciliary dyskinesia
- D69H (p.Asp69His), gnomAD rs1778074228, REVEL 0.14, MetaLR 0.10
- D69Y (p.Asp69Tyr), gnomAD rs1778074228, REVEL 0.13, MetaLR 0.09
- Q70* (p.Gln70Ter), NCI-TCGA Cosmic COSV9944, Variant assessed as somatic; high impact.
- L71H (p.Leu71His), TOPMed rs1402805753, gnomAD rs1402805753, REVEL 0.29, MetaLR 0.09
- A73C (p.Ala73Cys), NCI-TCGA TCGA novel, MetaLR 0.06, MetaSVM -1.07, Variant assessed as somatic; high impact.
- A73G (p.Ala73Gly), gnomAD rs1415967970, REVEL 0.04, MetaLR 0.06
- V74I (p.Val74Ile), rs1778072400, ClinGen CA359227275, ClinVar RCV003082062, TOPMed rs1778072400, REVEL 0.10, MetaLR 0.05, Uncertain significance, Primary ciliary dyskinesia
- V74L (p.Val74Leu), NCI-TCGA TCGA novel, REVEL 0.08, MetaLR 0.06, Variant assessed as somatic; moderate impact.
- G75E (p.Gly75Glu), NCI-TCGA Cosmic COSV5424, Variant assessed as somatic; moderate impact.
- G75R (p.Gly75Arg), TOPMed rs1355502912, gnomAD rs1355502912, REVEL 0.18, MetaLR 0.07
- G76S (p.Gly76Ser), TOPMed rs1778071407
- L77F (p.Leu77Phe), TOPMed rs1778071175, REVEL 0.04, MetaLR 0.04
- R78* (p.Arg78Ter), rs1314223921, ClinGen CA359227174, NCI-TCGA Cosmic COSV5424, ClinVar RCV001863336, CADD 37.00, Pathogenic
- R78G (p.Arg78Gly), TOPMed rs1314223921, gnomAD rs1314223921, REVEL 0.18, MetaLR 0.09, Pathogenic
- R78Q (p.Arg78Gln), rs755574532, ClinGen CA3205244, NCI-TCGA Cosmic COSV5423, ClinVar RCV003537601, REVEL 0.12, MetaLR 0.08, Likely benign, Primary ciliary dyskinesia
- L80V (p.Leu80Val), TOPMed rs986424981, gnomAD rs986424981, REVEL 0.09, MetaLR 0.10
- M81V (p.Met81Val), TOPMed rs1159384259, gnomAD rs1159384259, REVEL 0.09, MetaLR 0.05
- Y84* (p.Tyr84Ter), rs754982008, ClinGen CA3205241, ClinVar RCV000629311, ExAC rs754982008, CADD 34.00, Pathogenic
- Y84C (p.Tyr84Cys), rs780968511, ClinGen CA3205242, ClinVar RCV002634076, ExAC rs780968511, REVEL 0.39, MetaLR 0.23, Benign, Primary ciliary dyskinesia
- Y84H (p.Tyr84His), rs1159823492, ClinGen CA359226959, ClinVar RCV003649965, TOPMed rs1159823492, REVEL 0.22, MetaLR 0.11, Conflicting interpretations, Primary ciliary dyskinesia
- Y84S (p.Tyr84Ser), ExAC rs780968511, TOPMed rs780968511, gnomAD rs780968511, REVEL 0.29, MetaLR 0.18, Uncertain significance, Primary ciliary dyskinesia
- Q85H (p.Gln85His), TOPMed rs377179099, gnomAD rs377179099, REVEL 0.28, MetaLR 0.15, Likely benign
- D86G (p.Asp86Gly), rs147441805, ClinGen CA3205240, ClinVar RCV000468468, ESP rs147441805, REVEL 0.13, MetaLR 0.08, Uncertain significance
- D86N (p.Asp86Asn), NCI-TCGA Cosmic COSV5422, MetaLR 0.02, MetaSVM -0.96, Variant assessed as somatic; moderate impact.
- D86V (p.Asp86Val), ESP rs147441805, ExAC rs147441805, TOPMed rs147441805, gnomAD rs147441805, REVEL 0.20, MetaLR 0.08, Uncertain significance
- V87M (p.Val87Met), rs1778067241, ClinGen CA359226788, ClinVar RCV001277836, Ensembl rs1778067241, REVEL 0.03, MetaLR 0.06, Uncertain significance, Primary ciliary dyskinesia
- E88* (p.Glu88Ter), NCI-TCGA Cosmic COSV9945, Variant assessed as somatic; high impact.
- E89K (p.Glu89Lys), rs1346326284, ClinGen CA359226691, ClinVar RCV002453123, TOPMed rs1346326284, REVEL 0.08, MetaLR 0.03, Uncertain significance, Primary ciliary dyskinesia
- E89V (p.Glu89Val), NCI-TCGA Cosmic COSV5424, MetaLR 0.03, MetaSVM -1.04, Variant assessed as somatic; moderate impact.
- A90E (p.Ala90Glu), rs758559495, ClinGen CA3205238, ClinVar RCV000248770, ExAC rs758559495, REVEL 0.08, MetaLR 0.03, Likely benign
- A90S (p.Ala90Ser), NCI-TCGA TCGA novel, MetaLR 0.05, MetaSVM -1.06, Variant assessed as somatic; moderate impact.
- A90V (p.Ala90Val), ExAC rs758559495, TOPMed rs758559495, gnomAD rs758559495, REVEL 0.04, MetaLR 0.05, Likely benign
- E91* (p.Glu91Ter), rs750649191, ClinGen CA3205237, ClinVar RCV000732076, ClinVar RCV001384589, CADD 37.00, Pathogenic
- T92=, NCI-TCGA Cosmic COSV9945, Variant assessed as somatic; low impact.
- T92I (p.Thr92Ile), rs765566079, ClinGen CA359226478, ClinVar RCV001976703, ExAC rs765566079, REVEL 0.05, MetaLR 0.05, Uncertain significance, Primary ciliary dyskinesia
- T92R (p.Thr92Arg), rs765566079, ClinGen CA3205236, ClinVar RCV001913473, ExAC rs765566079, REVEL 0.04, MetaLR 0.04, Uncertain significance, Primary ciliary dyskinesia
- G93R (p.Gly93Arg), rs1428534050, ClinGen CA359226469, ClinVar RCV001255291, TOPMed rs1428534050, REVEL 0.13, MetaLR 0.07, Conflicting interpretations, Primary ciliary dyskinesia
- Q94K (p.Gln94Lys), TOPMed rs1777518442
- L95F (p.Leu95Phe), rs757542755, ClinGen CA3205218, ClinVar RCV002435228, ClinVar RCV004790211, REVEL 0.06, MetaLR 0.05, Uncertain significance, Primary ciliary dyskinesia 3; Primary ciliary dyskinesia; not provided
- L95I (p.Leu95Ile), NCI-TCGA Cosmic COSV9944, Variant assessed as somatic; moderate impact.
- L95P (p.Leu95Pro), Ensembl rs2151997357
- L95V (p.Leu95Val), rs757542755, ClinGen CA113968471, ClinVar RCV001151415, ExAC rs757542755, REVEL 0.06, MetaLR 0.04, Uncertain significance, Primary ciliary dyskinesia 3
- G96S (p.Gly96Ser), gnomAD rs1215940712, REVEL 0.06, AlphaMissense 0.18
- S97C (p.Ser97Cys), ExAC rs753824168, TOPMed rs753824168, gnomAD rs753824168
- S97F (p.Ser97Phe), ExAC rs753824168, TOPMed rs753824168, gnomAD rs753824168, REVEL 0.04, MetaLR 0.04
- S97P (p.Ser97Pro), Ensembl rs1580910154
- L98P (p.Leu98Pro), gnomAD rs1441282420, REVEL 0.07, MetaLR 0.02
- G99E (p.Gly99Glu), gnomAD rs1396433480, REVEL 0.06, MetaLR 0.05
- G100A (p.Gly100Ala), rs144236383, ClinGen CA3205215, ClinVar RCV000244963, ClinVar RCV000344003, REVEL 0.05, MetaLR 0.02, Benign
- G100R (p.Gly100Arg), rs764244707, ClinGen CA3205216, NCI-TCGA Cosmic COSV5421, ClinVar RCV003084300, REVEL 0.06, MetaLR 0.03, Likely benign, Primary ciliary dyskinesia
- G100W (p.Gly100Trp), ExAC rs764244707, gnomAD rs764244707, REVEL 0.15, MetaLR 0.06, Likely benign
- V101I (p.Val101Ile), TOPMed rs1290717928
- V101L (p.Val101Leu), NCI-TCGA Cosmic COSV9945, Variant assessed as somatic; moderate impact.
- L103V (p.Leu103Val), ESP rs375788827, ExAC rs375788827, TOPMed rs375788827, gnomAD rs375788827, REVEL 0.04, MetaLR 0.02
- V104A (p.Val104Ala), NCI-TCGA Cosmic COSV9944, REVEL 0.04, MetaLR 0.03, Variant assessed as somatic; moderate impact.
- K107Q (p.Lys107Gln), NCI-TCGA Cosmic COSV9945, MetaLR 0.06, MetaSVM -1.10, Uncertain significance, Primary ciliary dyskinesia
- K107R (p.Lys107Arg), 1000Genomes rs576409964, REVEL 0.03, MetaLR 0.03
- I108M (p.Ile108Met), ExAC rs752185767, gnomAD rs752185767, REVEL 0.07, MetaLR 0.03
- I108N (p.Ile108Asn), gnomAD rs1777512314, REVEL 0.03, MetaLR 0.02
- I108T (p.Ile108Thr), NCI-TCGA Cosmic COSV9944, REVEL 0.03, MetaLR 0.03, Variant assessed as somatic; moderate impact.
- K109* (p.Lys109Ter), rs2547160581, ClinGen CA359224062, ClinVar RCV003539000, Pathogenic
- K110N (p.Lys110Asn), rs138832246, ClinGen CA3205211, ClinVar RCV000231939, ClinVar RCV001151413, REVEL 0.08, MetaLR 0.05, Uncertain significance
- K110T (p.Lys110Thr), rs2547160570, ClinGen CA359224039, ClinVar RCV002454663, Uncertain significance, Primary ciliary dyskinesia
- P111L (p.Pro111Leu), Ensembl rs1777511298
- P111S (p.Pro111Ser), NCI-TCGA Cosmic COSV5425, Variant assessed as somatic; moderate impact.
- P111T (p.Pro111Thr), NCI-TCGA Cosmic COSV5425, Variant assessed as somatic; moderate impact.
- K112* (p.Lys112Ter), TOPMed rs1323882077
- F114L (p.Phe114Leu), 1000Genomes rs145920072, ESP rs145920072, ExAC rs145920072, TOPMed rs145920072, REVEL 0.20, MetaLR 0.08, Likely benign
- F114S (p.Phe114Ser), TOPMed rs1222532400, REVEL 0.26, MetaLR 0.08
- V115M (p.Val115Met), rs141691604, ClinGen CA3205209, ClinVar RCV003080261, 1000Genomes rs141691604, REVEL 0.06, MetaLR 0.08, Benign, Primary ciliary dyskinesia
- E117* (p.Glu117Ter), rs116128702, ClinGen CA359223945, ClinVar RCV000528988, 1000Genomes rs116128702, AlphaMissense 0.13, MetaLR 0.09, Pathogenic
- E117K (p.Glu117Lys), rs116128702, ClinGen CA3205206, NCI-TCGA Cosmic COSV5420, ClinVar RCV000550569, REVEL 0.14, AlphaMissense 0.13, Pathogenic
- E117Q (p.Glu117Gln), 1000Genomes rs116128702, ExAC rs116128702, TOPMed rs116128702, gnomAD rs116128702, REVEL 0.11, AlphaMissense 0.13, Pathogenic
- G118E (p.Gly118Glu), NCI-TCGA Cosmic COSV9944, Variant assessed as somatic; moderate impact.
- N119I (p.Asn119Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N119K (p.Asn119Lys), TOPMed rs1026473277, gnomAD rs1026473277, REVEL 0.14, MetaLR 0.01, Likely benign
- N119S (p.Asn119Ser), rs1777508838, ClinGen CA359223893, ClinVar RCV001277835, Ensembl rs1777508838, AlphaMissense 0.06, MetaLR 0.02, Uncertain significance, Primary ciliary dyskinesia
- D120G (p.Asp120Gly), ExAC rs772050000, TOPMed rs772050000, gnomAD rs772050000, REVEL 0.20, MetaLR 0.08
- D120N (p.Asp120Asn), rs779957324, ClinGen CA3205205, NCI-TCGA Cosmic COSV5420, ClinVar RCV002455129, REVEL 0.13, MetaLR 0.08, Conflicting interpretations, Primary ciliary dyskinesia
- V121A (p.Val121Ala), rs752992572, ClinGen CA3205202, ClinVar RCV001156829, ClinVar RCV002558367, REVEL 0.08, MetaLR 0.05, Conflicting interpretations, Primary ciliary dyskinesia; Primary ciliary dyskinesia 3
- A122V (p.Ala122Val), gnomAD rs1234602973, REVEL 0.17, MetaLR 0.08
- L123F (p.Leu123Phe), rs148017278, ClinGen CA3205201, ClinVar RCV000232369, ClinVar RCV001095094, REVEL 0.15, MetaLR 0.08, Benign
- T124S (p.Thr124Ser), TOPMed rs1298981026, gnomAD rs1298981026, REVEL 0.10, MetaLR 0.07, Uncertain significance, Primary ciliary dyskinesia
- V126L (p.Val126Leu), ESP rs375321703, ExAC rs375321703, TOPMed rs375321703, gnomAD rs375321703, REVEL 0.05, MetaLR 0.03
- C127S (p.Cys127Ser), TOPMed rs1777505631
- C127Y (p.Cys127Tyr), TOPMed rs1777505631, MetaLR 0.11, MetaSVM -0.97
- V128E (p.Val128Glu), rs752873229, ClinGen CA3205197, ClinVar RCV002903677, ExAC rs752873229, REVEL 0.28, MetaLR 0.10, Likely benign, Primary ciliary dyskinesia
- V128M (p.Val128Met), rs200553244, ClinGen CA3205198, ClinVar RCV000680160, ClinVar RCV000796103, REVEL 0.02, MetaLR 0.07, Uncertain significance
- F129L (p.Phe129Leu), NCI-TCGA Cosmic COSV5421, REVEL 0.18, MetaLR 0.08, Variant assessed as somatic; moderate impact.
- R132S (p.Arg132Ser), Ensembl rs1777503817
- T133P (p.Thr133Pro), Ensembl rs1777503609
- T133S (p.Thr133Ser), ExAC rs751820443, TOPMed rs751820443, gnomAD rs751820443, REVEL 0.11, MetaLR 0.03
- D134G (p.Asp134Gly), rs2547160038, ClinGen CA359223672, ClinVar RCV002587993, Uncertain significance, Primary ciliary dyskinesia
- D134H (p.Asp134His), Ensembl rs2151997106
- P135S (p.Pro135Ser), TOPMed rs1381733326, gnomAD rs1381733326, REVEL 0.04, MetaLR 0.02
- S136C (p.Ser136Cys), Ensembl rs1777502215
- A138T (p.Ala138Thr), rs1198674256, NCI-TCGA Cosmic COSV5422, gnomAD rs1198674256, REVEL 0.10, MetaLR 0.09, Variant assessed as somatic; moderate impact.
- A138V (p.Ala138Val), gnomAD rs1420207475, MetaLR 0.08, MetaSVM -1.08
- I139M (p.Ile139Met), NCI-TCGA Cosmic COSV9945, REVEL 0.10, MetaLR 0.06, Variant assessed as somatic; moderate impact.
- P141H (p.Pro141His), TOPMed rs1357634869, REVEL 0.11, MetaLR 0.06
- D142E (p.Asp142Glu), rs1180629207, TOPMed rs1180629207, gnomAD rs1180629207, REVEL 0.19, MetaLR 0.01, Likely benign, Primary ciliary dyskinesia
- E147D (p.Glu147Asp), rs200732050, ClinGen CA113967196, ClinVar RCV001369425, 1000Genomes rs200732050, REVEL 0.17, AlphaMissense 0.12, Uncertain significance, Primary ciliary dyskinesia
- V148M (p.Val148Met), ExAC rs752112052, gnomAD rs752112052, REVEL 0.16, AlphaMissense 0.12
Public DNAH5 analysis runs
- DNAH5 analysis run — DNAH5 (6,727 variants) — completed 2026-08-29