COL5A2 (Collagen alpha-2(V) chain) variants and mutations
COL5A2 (also known as Collagen alpha-2(V) chain) is a human protein-coding gene encoding a collagen alpha-2(V) chain protein. It partners with COL5A1-derived chains to regulate collagen fibril formation in skin, tendons, and other connective tissues. Pathogenic variants can cause classical Ehlers-Danlos syndrome with tissue fragility, hyperextensible skin, and joint hypermobility. This analysis covers 2,248 COL5A2 variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, classic type, 2, and Ehlers-Danlos syndrome, classic type, 1. Example COL5A2 variants include M1?, M2T, and M2V.
Variant analysis overview
- Gene: COL5A2
- Protein: Collagen alpha-2(V) chain
- UniProt accession: P05997
- Organism: Homo sapiens
- Variants analyzed: 2248
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 1,994 unspecified-consequence records; 1 stop retained variant; 119 synonymous variants; 123 missense variants; 4 frameshift variants; 5 splice-region variants; 1 in-frame deletions; 1 substitution
- Prediction scores: 1,555 variants have prediction scores (69% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, classic type, 2, Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome type 1, Dupuytren Contracture, Abnormality of the skeletal system, multisystemic smooth muscle dysfunction syndrome, Skin ulcer, Ehlers-Danlos syndrome, osteoarthritis, hip, eye disorder, Ehlers-Danlos syndrome type 2.
Protein structure and variant hotspots
- Protein features: 2 domains; 4 binding sites; 9 post-translational modification sites.
- Structural context: 573 variants have structural context.
- PTM context: 17 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 COL5A2 variants
Examples include M1?, M2T, M2V, N4D, N4H, N4T, W5R, A6E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs563606558, ClinGen CA2023219, NCI-TCGA Cosmic COSV1008, ClinVar RCV000440501, MetaLR 0.47, MetaSVM -0.64, Likely pathogenic
- M2T (p.Met2Thr), rs762874073, ClinGen CA324549, ClinVar RCV000200003, ClinVar RCV002229099, REVEL 0.60, CADD 25.10, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1
- M2V (p.Met2Val), TOPMed rs1688745810
- N4D (p.Asn4Asp), rs1426460695, ClinGen CA349986349, ClinVar RCV003760633, TOPMed rs1426460695, REVEL 0.12, AlphaMissense 0.09, Likely benign, Ehlers-Danlos syndrome, classic type, 1
- N4H (p.Asn4His), rs1426460695, ClinGen CA349986350, ClinVar RCV001772735, TOPMed rs1426460695, AlphaMissense 0.09, MetaLR 0.35, Uncertain significance, not provided
- N4T (p.Asn4Thr), ExAC rs773011491, gnomAD rs773011491, REVEL 0.13, CADD 17.40
- W5R (p.Trp5Arg), TOPMed rs1688745554, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- A6E (p.Ala6Glu), rs2469601925, ClinGen CA349986333, ClinVar RCV003044499, REVEL 0.27, CADD 19.50, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- A6S (p.Ala6Ser), rs372910621, ClinGen CA2023216, ClinVar RCV001813792, ClinVar RCV002234443, REVEL 0.28, CADD 19.30, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not provided; Familial thoracic aortic
- A6T (p.Ala6Thr), rs372910621, ClinGen CA2023217, ClinVar RCV002594876, ClinVar RCV005321185, REVEL 0.27, CADD 21.00, Conflicting interpretations, Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- E7K (p.Glu7Lys), gnomAD rs1688745316, REVEL 0.29, CADD 20.20
- A8E (p.Ala8Glu), NCI-TCGA Cosmic COSV6641, Variant assessed as somatic; moderate impact.
- R9I (p.Arg9Ile), TOPMed rs1688745248
- R9S (p.Arg9Ser), TOPMed rs1199682443, gnomAD rs1199682443, Likely benign
- P10H (p.Pro10His), gnomAD rs1262160231, REVEL 0.36, CADD 20.40
- P10T (p.Pro10Thr), rs1457897938, ClinGen CA349986308, ClinVar RCV001280965, ClinVar RCV003224542, REVEL 0.19, CADD 18.30, Uncertain significance, Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type
- L11I (p.Leu11Ile), rs1576577162, ClinGen CA349986303, ClinVar RCV002234353, TOPMed rs1576577162, REVEL 0.26, CADD 21.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- L12F (p.Leu12Phe), rs768807471, ClinGen CA321159, ClinVar RCV000196741, ClinVar RCV002228869, REVEL 0.28, CADD 23.40, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not provided; Familial thoracic aortic
- L12H (p.Leu12His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I13V (p.Ile13Val), ExAC rs747233812, gnomAD rs747233812
- L14F (p.Leu14Phe), gnomAD rs1239855488, REVEL 0.41, CADD 22.90
- I15T (p.Ile15Thr), rs369394572, ClinGen CA2023214, ClinVar RCV002040343, ClinVar RCV004822981, REVEL 0.18, CADD 17.80, Likely benign, Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- I15V (p.Ile15Val), Ensembl rs1688744596
- V16A (p.Val16Ala), TOPMed rs1412408364, gnomAD rs1412408364, REVEL 0.23, CADD 22.30
- V16F (p.Val16Phe), gnomAD rs1371109056, REVEL 0.38, CADD 20.60
- L18F (p.Leu18Phe), rs2105831569, ClinGen CA349986256, ClinVar RCV001993844, Ensembl rs2105831569, AlphaMissense 0.07, MetaLR 0.47, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- G19E (p.Gly19Glu), ExAC rs772307917, gnomAD rs772307917
- G19R (p.Gly19Arg), Ensembl rs1688744342
- Q20H (p.Gln20His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q20R (p.Gln20Arg), Ensembl rs1688744154, REVEL 0.23, CADD 18.30
- F21L (p.Phe21Leu), TOPMed rs913643406
- V22F (p.Val22Phe), ExAC rs746289356, TOPMed rs746289356, gnomAD rs746289356, Uncertain significance
- V22I (p.Val22Ile), rs746289356, ClinGen CA2023212, ClinVar RCV002235112, ClinVar RCV004773194, REVEL 0.21, CADD 19.80, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not provided
- S23L (p.Ser23Leu), rs1335028282, ClinGen CA349986224, ClinVar RCV001769157, ClinVar RCV003594152, REVEL 0.30, CADD 22.10, Conflicting interpretations, not provided; Ehlers-Danlos syndrome, classic type, 1
- I24K (p.Ile24Lys), Ensembl rs1688743824
- I24M (p.Ile24Met), ExAC rs757874628, TOPMed rs757874628, gnomAD rs757874628, REVEL 0.40, CADD 22.10
- K25Q (p.Lys25Gln), rs1688743702, ClinGen CA349986217, ClinVar RCV002241641, Ensembl rs1688743702, AlphaMissense 0.07, MetaLR 0.38, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- E29G (p.Glu29Gly), rs780865605, ClinGen CA2023209, ClinVar RCV002242282, ClinVar RCV004770051, REVEL 0.19, CADD 22.90, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not provided; Familial thoracic aortic
- D30G (p.Asp30Gly), TOPMed rs892085408, gnomAD rs892085408, REVEL 0.28, CADD 19.40
- D30N (p.Asp30Asn), ExAC rs754612687, gnomAD rs754612687
- D30V (p.Asp30Val), TOPMed rs892085408, gnomAD rs892085408, REVEL 0.32, CADD 18.70
- E31K (p.Glu31Lys), TOPMed rs1377033087, REVEL 0.35, CADD 22.70
- E33K (p.Glu33Lys), gnomAD rs1179611947
- E38* (p.Glu38Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E38D (p.Glu38Asp), TOPMed rs1687238762, REVEL 0.23, CADD 17.40
- I39T (p.Ile39Thr), gnomAD rs1322519218, REVEL 0.16, CADD 19.60
- A40D (p.Ala40Asp), ExAC rs758092388, gnomAD rs758092388, REVEL 0.13, CADD 22.80, Uncertain significance
- A40T (p.Ala40Thr), rs1559108874, ClinGen CA349868837, ClinVar RCV002233417, Ensembl rs1559108874, REVEL 0.07, CADD 20.50, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- A40V (p.Ala40Val), rs758092388, ClinGen CA349868820, NCI-TCGA Cosmic COSV6641, ClinVar RCV002231317, REVEL 0.14, CADD 22.90, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- T42I (p.Thr42Ile), Ensembl rs1553519049, REVEL 0.02, CADD 19.80
- N44D (p.Asn44Asp), gnomAD rs1212864305, REVEL 0.08, CADD 15.80
- N44T (p.Asn44Thr), rs2469425510, ClinGen CA349868729, ClinVar RCV003031958, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- G45D (p.Gly45Asp), rs1333432776, ClinGen CA349868700, ClinVar RCV002387919, ClinVar RCV006460161, REVEL 0.37, CADD 22.50, Uncertain significance, not specified; Familial thoracic aortic aneurysm and aortic dissection
- Q46E (p.Gln46Glu), rs2469425484, ClinGen CA349868690, ClinVar RCV002631009, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- M47I (p.Met47Ile), rs1553519048, ClinGen CA349868639, ClinVar RCV002314275, TOPMed rs1553519048, AlphaMissense 0.13, MetaLR 0.09, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- M47T (p.Met47Thr), gnomAD rs1687238166
- Y48H (p.Tyr48His), rs750126490, ClinGen CA2023185, NCI-TCGA Cosmic COSV1008, ClinVar RCV001936760, REVEL 0.49, CADD 28.90, Likely benign, Ehlers-Danlos syndrome, classic type, 1
- L49F (p.Leu49Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R51W (p.Arg51Trp), NCI-TCGA Cosmic COSV6641, Variant assessed as somatic; moderate impact.
- I53N (p.Ile53Asn), rs1443765130, ClinGen CA349868472, ClinVar RCV001287497, ClinVar RCV002235905, REVEL 0.46, CADD 29.20, Uncertain significance, Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1
- W54C (p.Trp54Cys), rs863223500, ClinGen CA320053, ClinVar RCV000195689, ClinVar RCV003407698, REVEL 0.85, CADD 31.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder; not provided
- K55N (p.Lys55Asn), Ensembl rs1576533667
- K55R (p.Lys55Arg), TOPMed rs1687237719
- P56L (p.Pro56Leu), rs765019090, ClinGen CA2023184, ClinVar RCV003399709, ClinVar RCV005104300, REVEL 0.56, CADD 29.80, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder
- P56S (p.Pro56Ser), Ensembl rs1687237611, REVEL 0.45, CADD 26.30
- A57D (p.Ala57Asp), ExAC rs757107924, gnomAD rs757107924, REVEL 0.17, CADD 22.50
- A57V (p.Ala57Val), ExAC rs757107924, gnomAD rs757107924
- P58A (p.Pro58Ala), TOPMed rs1687237393
- P58H (p.Pro58His), rs766925699, ClinGen CA349868322, ClinVar RCV002231321, TOPMed rs766925699, AlphaMissense 0.13, MetaLR 0.46, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- P58L (p.Pro58Leu), TOPMed rs766925699, gnomAD rs766925699, REVEL 0.44, AlphaMissense 0.13, Uncertain significance
- Q60H (p.Gln60His), ExAC rs759303686, TOPMed rs759303686, gnomAD rs759303686, REVEL 0.34, CADD 22.20, Likely benign
- I61F (p.Ile61Phe), TOPMed rs1687237119, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- I61T (p.Ile61Thr), NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; moderate impact.
- I61V (p.Ile61Val), rs1687237119, ClinGen CA349868287, ClinVar RCV003760102, AlphaMissense 0.49, MetaLR 0.47, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- C62F (p.Cys62Phe), ExAC rs760636865, gnomAD rs760636865, REVEL 0.86, CADD 27.50
- V63I (p.Val63Ile), ExAC rs767590090, gnomAD rs767590090, REVEL 0.20, CADD 22.40
- C64S (p.Cys64Ser), rs1243495822, ClinGen CA349868245, ClinVar RCV002410679, TOPMed rs1243495822, REVEL 0.93, CADD 26.70, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A68S (p.Ala68Ser), NCI-TCGA TCGA novel, REVEL 0.12, CADD 19.10, Variant assessed as somatic; moderate impact.
- I69V (p.Ile69Val), gnomAD rs1193774308, REVEL 0.08, CADD 17.30
- L70F (p.Leu70Phe), rs1687236468, ClinGen CA349868111, NCI-TCGA Cosmic COSV1008, ClinVar RCV003391653, REVEL 0.39, CADD 26.40, Uncertain significance, not specified; COL5A2-related disorder
- C71F (p.Cys71Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C71S (p.Cys71Ser), rs2469425273, ClinGen CA349868082, ClinVar RCV003758279, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- D72V (p.Asp72Val), TOPMed rs1687236331
- K73E (p.Lys73Glu), rs1359910385, ClinGen CA349868047, ClinVar RCV003480002, TOPMed rs1359910385, REVEL 0.08, CADD 16.70, Uncertain significance, not specified
- I74M (p.Ile74Met), rs1248370726, NCI-TCGA Cosmic COSV6641, TOPMed rs1248370726, AlphaMissense 0.15, MetaLR 0.36, Variant assessed as somatic; moderate impact.
- I74R (p.Ile74Arg), ExAC rs771419836, TOPMed rs771419836, gnomAD rs771419836, REVEL 0.68, CADD 27.70
- I74T (p.Ile74Thr), ExAC rs771419836, TOPMed rs771419836, gnomAD rs771419836, REVEL 0.51, CADD 26.40
- I74V (p.Ile74Val), TOPMed rs1687236147, REVEL 0.08, CADD 19.40, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- E75* (p.Glu75Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E75K (p.Glu75Lys), Ensembl rs867181051, REVEL 0.11, CADD 18.20
- C76Y (p.Cys76Tyr), rs2469425204, ClinGen CA349867984, ClinVar RCV003828785, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- D78E (p.Asp78Glu), TOPMed rs1202611195, gnomAD rs1202611195, REVEL 0.12, CADD 0.01
- D78G (p.Asp78Gly), rs201022138, ClinGen CA349867911, ClinVar RCV002975382, 1000Genomes rs201022138, REVEL 0.22, CADD 22.40, Conflicting interpretations, Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- D78H (p.Asp78His), NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; moderate impact.
- D78N (p.Asp78Asn), TOPMed rs1184124995, gnomAD rs1184124995, REVEL 0.16, CADD 22.80
- D78V (p.Asp78Val), rs201022138, ClinGen CA2023173, ClinVar RCV001765286, ClinVar RCV002540364, REVEL 0.24, CADD 23.10, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; COL5A2-related disorder; not provided
- V79M (p.Val79Met), rs1181992113, ClinGen CA349867871, ClinVar RCV002632894, ClinVar RCV005542961, REVEL 0.09, CADD 13.50, Conflicting interpretations, Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- L80Q (p.Leu80Gln), rs1458760818, ClinGen CA349867847, ClinVar RCV001751438, ClinVar RCV002241336, REVEL 0.30, CADD 17.60, Uncertain significance, not provided; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Da
- L80V (p.Leu80Val), rs746454126, ClinGen CA2023172, ClinVar RCV001285617, ClinVar RCV002230794, REVEL 0.16, CADD 17.40, Conflicting interpretations, not specified; Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome
- D81E (p.Asp81Glu), ExAC rs779628865, gnomAD rs779628865
- D81N (p.Asp81Asn), rs2469425124, ClinGen CA349867832, ClinVar RCV003760689, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- C82S (p.Cys82Ser), TOPMed rs200972671
- C82Y (p.Cys82Tyr), TOPMed rs200972671
- A83S (p.Ala83Ser), rs1553519033, ClinGen CA349867754, ClinVar RCV002314274, Ensembl rs1553519033, REVEL 0.15, CADD 21.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- A83T (p.Ala83Thr), Ensembl rs1553519033, Uncertain significance
- A83V (p.Ala83Val), rs866611080, NCI-TCGA Cosmic COSV6641, Ensembl rs866611080, AlphaMissense 0.07, MetaLR 0.22, Variant assessed as somatic; moderate impact.
- D84H (p.Asp84His), rs745528957, ClinGen CA2023170, ClinVar RCV000523952, ClinVar RCV002525195, REVEL 0.06, CADD 22.20, Conflicting interpretations, not provided; Ehlers-Danlos syndrome, classic type, 1
- D84N (p.Asp84Asn), rs745528957, ClinGen CA349867743, ClinVar RCV002233026, ClinVar RCV002314278, REVEL 0.08, CADD 15.00, Conflicting interpretations, not provided; Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic
- D84Y (p.Asp84Tyr), NCI-TCGA Cosmic COSV1008, Variant assessed as somatic; moderate impact.
- P85A (p.Pro85Ala), gnomAD rs957752770, REVEL 0.09, CADD 17.80
- P85R (p.Pro85Arg), gnomAD rs1304113332, REVEL 0.49, CADD 24.40
- V86I (p.Val86Ile), rs1387694873, ClinGen CA349867714, ClinVar RCV001878156, gnomAD rs1387694873, REVEL 0.06, CADD 0.37, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- T87K (p.Thr87Lys), ExAC rs778591411, TOPMed rs778591411, gnomAD rs778591411, REVEL 0.06, CADD 21.10, Likely benign
- T87M (p.Thr87Met), rs778591411, ClinGen CA2023169, ClinVar RCV002235066, ExAC rs778591411, REVEL 0.10, CADD 21.70, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- T87P (p.Thr87Pro), rs1687234505, ClinGen CA349867697, ClinVar RCV002239286, Ensembl rs1687234505, AlphaMissense 0.12, MetaLR 0.20, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- P88H (p.Pro88His), rs149877855, ClinGen CA322375, ClinVar RCV000197910, ClinVar RCV001142046, REVEL 0.56, CADD 27.70, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 2; not specified; Ehlers-Danlos syndrome
- P88S (p.Pro88Ser), ExAC rs753669685, gnomAD rs753669685, REVEL 0.48, CADD 26.20
- P88T (p.Pro88Thr), ExAC rs753669685, gnomAD rs753669685
- P89A (p.Pro89Ala), Ensembl rs1687234011
- G90E (p.Gly90Glu), Ensembl rs1687233947, REVEL 0.55, CADD 24.40
- E91K (p.Glu91Lys), NCI-TCGA Cosmic COSV1008, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- E91Q (p.Glu91Gln), rs730880065, ClinGen CA346253, ClinVar RCV000157148, Ensembl rs730880065, AlphaMissense 0.19, MetaLR 0.49, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- P94L (p.Pro94Leu), rs1687233615, ClinGen CA349867508, ClinVar RCV003758209, AlphaMissense 0.11, MetaLR 0.51, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- P94R (p.Pro94Arg), gnomAD rs1687233615
- V95D (p.Val95Asp), rs759604513, ClinGen CA324653, ClinVar RCV000200099, ClinVar RCV002228868, REVEL 0.43, CADD 22.80, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; not specified; not provided
- V95I (p.Val95Ile), TOPMed rs1200990468, gnomAD rs1200990468, REVEL 0.09, CADD 9.17, Benign
- V95L (p.Val95Leu), rs1200990468, ClinGen CA349867499, ClinVar RCV000507073, ClinVar RCV001857262, REVEL 0.18, CADD 17.30, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not specified
- S97T (p.Ser97Thr), rs1193876792, ClinGen CA349867464, ClinVar RCV002701450, gnomAD rs1193876792, REVEL 0.07, CADD 14.80, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- Q98* (p.Gln98Ter), rs2105711947, ClinGen CA349867437, ClinVar RCV001760940, Ensembl rs2105711947, Uncertain significance
- Q98R (p.Gln98Arg), rs374402209, ClinGen CA2023162, ClinVar RCV002242114, ClinVar RCV003382522, REVEL 0.07, CADD 17.50, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not provided; Familial thoracic aortic
- T99A (p.Thr99Ala), TOPMed rs1687233065
- T99I (p.Thr99Ile), rs773743633, ClinGen CA2023161, ClinVar RCV003012129, ExAC rs773743633, REVEL 0.30, CADD 22.20, Likely benign, Ehlers-Danlos syndrome, classic type, 1
- T99N (p.Thr99Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- P100R (p.Pro100Arg), ExAC rs762386823, gnomAD rs762386823, REVEL 0.15, CADD 22.00
- P100S (p.Pro100Ser), ExAC rs770141309, gnomAD rs770141309, REVEL 0.23, CADD 0.04
- G101E (p.Gly101Glu), rs777070552, ClinGen CA2023158, ClinVar RCV001142045, ExAC rs777070552, REVEL 0.36, CADD 18.30, Likely benign, Ehlers-Danlos syndrome, classic type, 2
- G101R (p.Gly101Arg), Ensembl rs1687232773
- G101V (p.Gly101Val), NCI-TCGA Cosmic COSV6641, Variant assessed as somatic; moderate impact.
- G102D (p.Gly102Asp), rs151146283, ClinGen CA2023157, ClinVar RCV003318290, ESP rs151146283, REVEL 0.09, CADD 13.00, Uncertain significance, not provided
- G102S (p.Gly102Ser), NCI-TCGA TCGA novel, REVEL 0.11, CADD 11.60, Variant assessed as somatic; moderate impact.
- G102V (p.Gly102Val), ESP rs151146283, ExAC rs151146283, TOPMed rs151146283, gnomAD rs151146283, REVEL 0.10, CADD 14.80, Uncertain significance
- G103S (p.Gly103Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T105=, rs4128539, ClinVar RCV000124523, ClinVar RCV000587095, ClinVar RCV001082631, Benign
- N106D (p.Asn106Asp), rs1449512324, ClinGen CA349867290, ClinVar RCV000509254, TOPMed rs1449512324, REVEL 0.22, CADD 14.90, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection
- F107L (p.Phe107Leu), ExAC rs778501601, TOPMed rs778501601, gnomAD rs778501601, REVEL 0.46, CADD 13.80, Uncertain significance
- F107V (p.Phe107Val), rs778501601, ClinGen CA349867275, ClinVar RCV000788223, ClinVar RCV001869203, REVEL 0.47, CADD 16.80, Uncertain significance, not specified; not provided; Ehlers-Danlos syndrome, classic type, 1
- G108D (p.Gly108Asp), rs954753747, ClinGen CA62581721, ClinVar RCV001507609, TOPMed rs954753747, REVEL 0.38, CADD 21.50, Uncertain significance, not provided
- R109G (p.Arg109Gly), Ensembl rs1687107665, REVEL 0.57, CADD 22.90
- R109K (p.Arg109Lys), rs765627984, ClinGen CA2023145, ClinVar RCV003039314, ClinVar RCV005926825, REVEL 0.27, CADD 19.80, Likely benign, Ehlers-Danlos syndrome, classic type, 1
- G110E (p.Gly110Glu), rs863223501, ClinGen CA322960, ClinVar RCV000198454, Ensembl rs863223501, REVEL 0.61, CADD 33.00, Uncertain significance, not provided
- R111I (p.Arg111Ile), NCI-TCGA Cosmic COSV6640, Variant assessed as somatic; moderate impact.
- R111K (p.Arg111Lys), NCI-TCGA Cosmic COSV6640, REVEL 0.35, CADD 24.90, Variant assessed as somatic; moderate impact.
- R111S (p.Arg111Ser), gnomAD rs1162712722, REVEL 0.51, CADD 27.50
- G113R (p.Gly113Arg), NCI-TCGA Cosmic COSV6641, Variant assessed as somatic; moderate impact.
- K115N (p.Lys115Asn), rs2105690115, ClinGen CA349864174, ClinVar RCV001971496, Ensembl rs2105690115, AlphaMissense 0.91, MetaLR 0.78, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1
- P118R (p.Pro118Arg), rs1224192066, ClinGen CA349864137, ClinVar RCV002224271, TOPMed rs1224192066, REVEL 0.70, CADD 25.40, Uncertain significance, not provided
- V121E (p.Val121Glu), gnomAD rs1478410373, REVEL 0.71, CADD 27.40
- V121L (p.Val121Leu), rs754180974, NCI-TCGA Cosmic COSV6641, ExAC rs754180974, gnomAD rs754180974, REVEL 0.47, CADD 21.50, Likely benign, Ehlers-Danlos syndrome, classic type, 1
- P122S (p.Pro122Ser), ExAC rs764608533, TOPMed rs764608533, gnomAD rs764608533, REVEL 0.46, CADD 23.30
- V123I (p.Val123Ile), 1000Genomes rs193009266, TOPMed rs193009266, gnomAD rs193009266, REVEL 0.25, CADD 18.40
- V123L (p.Val123Leu), 1000Genomes rs193009266, TOPMed rs193009266, gnomAD rs193009266, REVEL 0.26, CADD 17.00
- V124A (p.Val124Ala), ExAC rs745971216, gnomAD rs745971216, REVEL 0.51, CADD 23.50
- T125K (p.Thr125Lys), TOPMed rs1686973835
- G126D (p.Gly126Asp), NCI-TCGA Cosmic COSV6641, Variant assessed as somatic; moderate impact.
- G126S (p.Gly126Ser), rs779153546, ClinGen CA322643, ClinVar RCV000198159, ClinVar RCV002345701, REVEL 0.75, CADD 26.70, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; not provided; not specified
- I127L (p.Ile127Leu), rs1064795177, ClinGen CA349863960, ClinVar RCV002232899, ClinVar RCV005801861, REVEL 0.43, CADD 22.60, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- I127V (p.Ile127Val), rs1064795177, ClinGen CA16617402, ClinVar RCV000478518, ClinVar RCV002230938, REVEL 0.44, CADD 21.00, Uncertain significance, Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- R128C (p.Arg128Cys), rs1247714244, ClinGen CA349863942, ClinVar RCV001587138, ClinVar RCV002359196, REVEL 0.69, CADD 32.00, Conflicting interpretations, Familial thoracic aortic aneurysm and aortic dissection; not specified; Ehlers-D
- R128H (p.Arg128His), rs757439328, ClinGen CA2023110, NCI-TCGA Cosmic COSV6641, ClinVar RCV002240507, REVEL 0.61, CADD 26.20, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- R128L (p.Arg128Leu), ExAC rs757439328, TOPMed rs757439328, gnomAD rs757439328, REVEL 0.61, CADD 26.10, Benign
- R128S (p.Arg128Ser), NCI-TCGA Cosmic COSV6641, Variant assessed as somatic; moderate impact.
- R130C (p.Arg130Cys), rs754170105, ClinGen CA2023109, ClinVar RCV000755980, ClinVar RCV001851203, REVEL 0.68, CADD 31.00, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, classic type, 2
- R130H (p.Arg130His), rs377331666, ClinGen CA2023108, ClinVar RCV000488093, ClinVar RCV000697227, REVEL 0.47, CADD 25.00, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- R130P (p.Arg130Pro), ESP rs377331666, ExAC rs377331666, TOPMed rs377331666, gnomAD rs377331666, Benign
- P131S (p.Pro131Ser), NCI-TCGA Cosmic COSV6641, Variant assessed as somatic; moderate impact.
- G132* (p.Gly132Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G132E (p.Gly132Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P133L (p.Pro133Leu), rs374225489, ClinGen CA324965, ClinVar RCV000200397, ClinVar RCV003153468, REVEL 0.43, CADD 24.20, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, classic type, 2
- P133R (p.Pro133Arg), ESP rs374225489, ExAC rs374225489, TOPMed rs374225489, gnomAD rs374225489, REVEL 0.75, CADD 28.50, Likely benign
- A134P (p.Ala134Pro), rs762420291, ClinGen CA349863880, ClinVar RCV002780211, ClinVar RCV006281063, AlphaMissense 0.08, MetaLR 0.50, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; not provided
Public COL5A2 analysis runs
- COL5A2 analysis run — COL5A2 (2,248 variants) — completed 2026-08-20