CFAP47 — 53 ClinVar variants
All ClinVar germline CFAP47 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Pathogenic · 27 Likely benign · 25 Uncertain significance
Full CFAP47 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CFAP47 p.Ile2385Asn
Pathogenic
No assertion criteria
spermatogenic failure, X-linked, 3
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP47 p.Ala566Ser Uncertain significance Single submitter
- CFAP47 p.Arg429Cys Uncertain significance Single submitter
- CFAP47 p.Asp1565Val Uncertain significance Single submitter
-
CFAP47 p.Gln2891His
Uncertain significance
Single submitter
Inborn genetic diseases
- CFAP47 p.Gln439Pro Uncertain significance Single submitter
- CFAP47 p.Glu2772Gly Uncertain significance Single submitter
- CFAP47 p.Glu498Lys Uncertain significance Single submitter
- CFAP47 p.His269Tyr Uncertain significance Single submitter
- CFAP47 p.Ile325Phe Uncertain significance Single submitter
-
CFAP47 p.Pro2938Leu
Uncertain significance
Single submitter
CFAP47-related disorder
- CFAP47 p.Pro834Leu Uncertain significance Single submitter
-
CFAP47 p.Thr3036Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFAP47 p.Thr3099Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CFAP47 p.Thr52Ser Uncertain significance Single submitter
- CFAP47 p.Thr89Ser Uncertain significance Single submitter
- CFAP47 p.Tyr1456His Uncertain significance Single submitter
- CFAP47 p.Val146Ala Uncertain significance Single submitter
- CFAP47 p.Val483Phe Uncertain significance Single submitter
- CFAP47 p.Val801Met Uncertain significance Single submitter
-
CFAP47 p.Met2771Val
Uncertain significance
No assertion criteria
Abnormality of neuronal migration
Predictors split 2
The independent predictors disagree with each other — read with care.
- CFAP47 p.Cys440Arg Likely benign Single submitter
-
CFAP47 p.Phe2735Leu
Uncertain significance
Single submitter
spermatogenic failure, X-linked, 3
All CFAP47 variants
Pathogenic 1
- p.Ile2385Asn No assertion criteria spermatogenic failure, X-linked, 3 ⚠
Likely benign 27
- p.Thr2847Met Multiple submitters Inborn genetic diseases
- c.4916+3A>G Single submitter
- c.5127+7T>C Single submitter
- p.Arg2909Trp Single submitter
- p.Arg574His Single submitter
- p.Arg870Trp Single submitter
- p.Cys440Arg Single submitter ⚠
- p.Gln2891= Single submitter
- p.Gly2616= Single submitter
- p.Ile3030= Single submitter
- p.Ile3170Thr Single submitter
- p.Ile390Met Single submitter
- p.Leu995Val Single submitter
- p.Lys268Glu Single submitter
- p.Lys628= Single submitter
- p.Ser2412= Single submitter
- p.Thr1473Ala Single submitter
- p.Thr2749Met Single submitter
- p.Val1648= Single submitter
- p.Arg870Gln No assertion criteria CFAP47-related disorder
- p.Asn2174Asp No assertion criteria CFAP47-related disorder
- p.Asn2541Ser No assertion criteria CFAP47-related disorder
- p.Asp1458Val No assertion criteria CFAP47-related disorder
- p.Gln4Ter No assertion criteria CFAP47-related disorder
- p.Ile1321Val No assertion criteria CFAP47-related disorder
- p.Ile2102Val No assertion criteria CFAP47-related disorder
- p.Thr768Ser No assertion criteria CFAP47-related disorder
Uncertain significance 25
- p.Ser964Gly Multiple submitters spermatogenic failure, X-linked, 3
- c.3652-4G>C Single submitter
- p.Ala566Ser Single submitter ⚠
- p.Arg429Cys Single submitter ⚠
- p.Asp1565Val Single submitter ⚠
- p.Gln2891His Single submitter Inborn genetic diseases ⚠
- p.Gln439Pro Single submitter ⚠
- p.Glu2772Gly Single submitter ⚠
- p.Glu498Lys Single submitter ⚠
- p.His269Tyr Single submitter ⚠
- p.Ile325Phe Single submitter ⚠
- p.Phe2735Leu Single submitter spermatogenic failure, X-linked, 3 ⚠
- p.Phe3025Cys Single submitter Inborn genetic diseases
- p.Pro2938Leu Single submitter CFAP47-related disorder ⚠
- p.Pro834Leu Single submitter ⚠
- p.Thr3036Met Single submitter Inborn genetic diseases ⚠
- p.Thr3099Ala Single submitter Inborn genetic diseases ⚠
- p.Thr52Ser Single submitter ⚠
- p.Thr89Ser Single submitter ⚠
- p.Tyr1456His Single submitter ⚠
- p.Val146Ala Single submitter ⚠
- p.Val2237Ile Single submitter spermatogenic failure, X-linked, 3
- p.Val483Phe Single submitter ⚠
- p.Val801Met Single submitter ⚠
- p.Met2771Val No assertion criteria Abnormality of neuronal migration ⚠