ITGA5 — 142 ClinVar variants

All ClinVar germline ITGA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

10 Benign · 4 Likely benign · 128 Uncertain significance

Full ITGA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 117

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 95

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 22

The independent predictors disagree with each other — read with care.

All ITGA5 variants

Benign 10

p.Ala495= Multiple submitters
p.Ala495Thr Multiple submitters
p.Ala722= Multiple submitters
p.Gly886Arg Multiple submitters
p.Leu923= Multiple submitters
p.Phe782= Multiple submitters
p.Ser494= Multiple submitters
c.2388-20_2388-6dup Single submitter
p.Arg312Gln Single submitter
p.Gln615Lys Single submitter

Likely benign 4

p.Arg973Gln Single submitter
p.Gln891Arg Single submitter
p.Glu7Gly Single submitter
p.Ile1019Val Single submitter

Uncertain significance 128

p.Thr865Met Multiple submitters ⚠
p.Ala157Thr Single submitter ⚠
p.Ala200Thr Single submitter ⚠
p.Ala332Thr Single submitter ⚠
p.Ala411Thr Single submitter ⚠
p.Ala504Thr Single submitter ⚠
p.Ala639Gly Single submitter
p.Arg1028Cys Single submitter ⚠
p.Arg163Cys Single submitter ⚠
p.Arg163Ser Single submitter ⚠
p.Arg21Pro Single submitter ⚠
p.Arg261His Single submitter ⚠
p.Arg353Gln Single submitter ⚠
p.Arg38Ser Single submitter ⚠
p.Arg391Gln Single submitter
p.Arg461Gln Single submitter ⚠
p.Arg4Leu Single submitter ⚠
p.Arg511Gln Single submitter ⚠
p.Arg558Trp Single submitter ⚠
p.Arg581Gln Single submitter ⚠
p.Arg598Gln Single submitter
p.Arg783Trp Single submitter ⚠
p.Arg894Gln Single submitter ⚠
p.Arg899His Single submitter ⚠
p.Arg948Trp Single submitter ⚠
p.Arg980His Single submitter ⚠
p.Asn307Lys Single submitter ⚠
p.Asn408Asp Single submitter ⚠
p.Asn43Ser Single submitter ⚠
p.Asn724Ile Single submitter ⚠
p.Asp284Val Single submitter ⚠
p.Asp341Gly Single submitter ⚠
p.Asp352Asn Single submitter ⚠
p.Asp613Tyr Single submitter
p.Asp654Ala Single submitter
p.Asp756Gly Single submitter ⚠
p.Cys108Phe Single submitter ⚠
p.Gln259His Single submitter ⚠
p.Gln567Glu Single submitter ⚠
p.Gln640Glu Single submitter ⚠
p.Gln791Arg Single submitter ⚠
p.Gln928His Single submitter ⚠
p.Gln935Arg Single submitter ⚠
p.Glu376Gln Single submitter ⚠
p.Glu545Gly Single submitter
p.Glu700Lys Single submitter ⚠
p.Gly1014Asp Single submitter ⚠
p.Gly1014Ser Single submitter ⚠
p.Gly102Asp Single submitter ⚠
p.Gly339Arg Single submitter ⚠
p.Gly374Ser Single submitter ⚠
p.Gly406Ser Single submitter ⚠
p.Gly413Glu Single submitter ⚠
p.Gly468Val Single submitter ⚠
p.Gly70Glu Single submitter ⚠
p.Gly70Val Single submitter ⚠
p.Gly796Ser Single submitter ⚠
p.His451Gln Single submitter ⚠
p.His873Leu Single submitter ⚠
p.Ile111Thr Single submitter ⚠
p.Ile412Val Single submitter ⚠
p.Ile540Thr Single submitter
p.Ile589Met Single submitter ⚠
p.Ile589Phe Single submitter
p.Leu178Val Single submitter ⚠
p.Leu306Phe Single submitter ⚠
p.Leu499Phe Single submitter ⚠
p.Leu515Ser Single submitter ⚠
p.Leu743Met Single submitter ⚠
p.Leu754Ile Single submitter ⚠
p.Leu858Phe Single submitter ⚠
p.Lys483Asn Single submitter ⚠
p.Lys552Arg Single submitter ⚠
p.Lys638Glu Single submitter ⚠
p.Lys978Asn Single submitter ⚠
p.Met1036Thr Single submitter ⚠
p.Met505Thr Single submitter ⚠
p.Met505Val Single submitter ⚠
p.Phe228Tyr Single submitter ⚠
p.Phe392Tyr Single submitter
p.Phe455Ile Single submitter ⚠
p.Phe610Cys Single submitter ⚠
p.Phe917Cys Single submitter ⚠
p.Pro19His Single submitter ⚠
p.Pro19Leu Single submitter ⚠
p.Pro348His Single submitter ⚠
p.Pro37Arg Single submitter ⚠
p.Pro429Ala Single submitter ⚠
p.Pro472Ala Single submitter ⚠
p.Pro603Leu Single submitter ⚠
p.Pro617Gln Single submitter ⚠
p.Pro699Ser Single submitter ⚠
p.Pro69Ala Single submitter ⚠
p.Pro816Ser Single submitter ⚠
p.Pro912Leu Single submitter ⚠
p.Pro9Ala Single submitter ⚠
p.Ser179Cys Single submitter ⚠
p.Ser395Phe Single submitter ⚠
p.Ser704Leu Single submitter ⚠
p.Ser838Asn Single submitter ⚠
p.Ser887Phe Single submitter ⚠
p.Ser901Phe Single submitter ⚠
p.Ser904Leu Single submitter ⚠
p.Ser954Arg Single submitter ⚠
p.Ser954Asn Single submitter ⚠
p.Thr1034Ile Single submitter ⚠
p.Thr145Ala Single submitter ⚠
p.Thr175Asn Single submitter
p.Thr216Asn Single submitter ⚠
p.Thr299Ile Single submitter ⚠
p.Thr354Asn Single submitter ⚠
p.Thr500Asn Single submitter ⚠
p.Tyr302Ser Single submitter ⚠
p.Tyr961His Single submitter ⚠
p.Val13Leu Single submitter ⚠
p.Val13Met Single submitter ⚠
p.Val493Met Single submitter ⚠
p.Val618Leu Single submitter ⚠
p.Val707Ile Single submitter ⚠
p.Val723Met Single submitter ⚠
p.Val74Ile Single submitter ⚠
p.Val74Leu Single submitter ⚠
p.Val803Ala Single submitter
p.Val807Gly Single submitter ⚠
p.Val864Ile Single submitter ⚠
p.Val940Ile Single submitter ⚠
p.Val997Ile Single submitter ⚠
p.Val997Phe Single submitter ⚠