ERCC5 — 19 ClinVar variants
All ClinVar germline ERCC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Likely pathogenic · 2 Conflicting · 1 Benign/Likely benign · 5 Likely benign · 10 Uncertain significance
Full ERCC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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ERCC5 p.Thr443Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
Predictors lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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ERCC5 p.Glu1090Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC5 p.Glu595Gln
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ERCC5 p.Ala1007Gly
Uncertain significance
Single submitter
hereditary neoplastic syndrome
-
ERCC5 p.Arg1166Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC5 p.Arg366Gln
Uncertain significance
Single submitter
hereditary neoplastic syndrome
-
ERCC5 p.Glu302Ala
Uncertain significance
Single submitter
hereditary neoplastic syndrome
-
ERCC5 p.Gly236Ala
Uncertain significance
Single submitter
hereditary neoplastic syndrome
-
ERCC5 p.His510Tyr
Uncertain significance
Single submitter
hereditary neoplastic syndrome
-
ERCC5 p.Lys1073Arg
Uncertain significance
Single submitter
hereditary neoplastic syndrome
All ERCC5 variants
Likely pathogenic 1
- c.89-?_528+?del No assertion criteria cerebrooculofacioskeletal syndrome 3
Conflicting classifications of pathogenicity 2
- p.Ile807= Single submitter hereditary neoplastic syndrome
- p.Thr443Ser Single submitter hereditary neoplastic syndrome ⚠
Benign/Likely benign 1
- p.Glu267= Multiple submitters hereditary neoplastic syndrome
Likely benign 5
- p.Ala376Val Multiple submitters hereditary neoplastic syndrome
- p.Asp379= Multiple submitters hereditary neoplastic syndrome
- p.Gly946= Single submitter hereditary neoplastic syndrome
- p.His261= Single submitter hereditary neoplastic syndrome
- p.Leu1070Pro Single submitter Inborn genetic diseases
Uncertain significance 10
- p.Glu1090Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu595Gln Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1007Gly Single submitter hereditary neoplastic syndrome ⚠
- p.Arg1166= Single submitter hereditary neoplastic syndrome
- p.Arg1166Lys Single submitter Inborn genetic diseases ⚠
- p.Arg366Gln Single submitter hereditary neoplastic syndrome ⚠
- p.Glu302Ala Single submitter hereditary neoplastic syndrome ⚠
- p.Gly236Ala Single submitter hereditary neoplastic syndrome ⚠
- p.His510Tyr Single submitter hereditary neoplastic syndrome ⚠
- p.Lys1073Arg Single submitter hereditary neoplastic syndrome ⚠