Sugi Variant

Sugi Variant/FANCF

FANCF — 509 ClinVar variants

All ClinVar germline FANCF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 266 flagged for review →

24 Pathogenic · 8 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 24 Conflicting · 12 Benign · 7 Benign/Likely benign · 93 Likely benign · 317 Uncertain significance

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

⚑ Evidence disagreements 266

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 12

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 222

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 222

Predictors split 32

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

All FANCF variants

Pathogenic 24

  • p.Ala180fs Multiple submitters Fanconi anemia
  • p.Ala29fs Multiple submitters Fanconi anemia complementation group F
  • p.Arg74fs Multiple submitters Fanconi anemia complementation group F
  • p.Asp9fs Multiple submitters Fanconi anemia
  • p.Leu162fs Multiple submitters FANCF-related disorder
  • p.Val77fs Multiple submitters Fanconi anemia
  • p.Ala137fs Single submitter Fanconi anemia complementation group F
  • p.Arg108fs Single submitter Fanconi anemia
  • p.Arg42fs Single submitter Fanconi anemia
  • p.Asn199fs Single submitter Fanconi anemia
  • p.Gln166Ter Single submitter Fanconi anemia complementation group F
  • p.Gly75fs Single submitter Fanconi anemia
  • p.Gly79fs Single submitter Fanconi anemia
  • p.Leu146_Arg147insTer Single submitter Fanconi anemia complementation group F
  • p.Leu171fs Single submitter Fanconi anemia
  • p.Lys179Ter Single submitter Fanconi anemia
  • p.Met1Ile Single submitter Fanconi anemia
  • p.Ser18Ter Single submitter Fanconi anemia
  • p.Thr30fs Single submitter Fanconi anemia
  • p.Tyr109Ter Single submitter Fanconi anemia
  • p.Tyr22fs Single submitter Fanconi anemia
  • p.Gln6Ter No assertion criteria Fanconi anemia complementation group F
  • p.Leu95fs No assertion criteria Fanconi anemia complementation group F
  • p.Lys179fs No assertion criteria Fanconi anemia complementation group F

Pathogenic/Likely pathogenic 8

Likely pathogenic 24

  • p.Gln65Ter Multiple submitters Fanconi anemia
  • p.Gly231fs Multiple submitters Fanconi anemia complementation group F
  • p.Val177fs Multiple submitters Fanconi anemia complementation group F
  • p.Asn244fs Single submitter Fanconi anemia complementation group F
  • p.Gln113Ter Single submitter Fanconi anemia complementation group F
  • p.Gln300Ter Single submitter Fanconi anemia complementation group F
  • p.Gln68Ter Single submitter Fanconi anemia complementation group F
  • p.Gln84Ter Single submitter Fanconi anemia complementation group F
  • p.Glu127Ter Single submitter Fanconi anemia complementation group F
  • p.Glu168Ter Single submitter Fanconi anemia complementation group F
  • p.Glu246fs Single submitter Fanconi anemia complementation group F
  • p.Glu69Ter Single submitter FANCF-related disorder
  • p.Gly79Ter Single submitter Fanconi anemia complementation group F
  • p.Ile205fs Single submitter FANCF-related disorder
  • p.Leu103fs Single submitter Fanconi anemia complementation group F
  • p.Leu214fs Single submitter Fanconi anemia complementation group F
  • p.Leu241fs Single submitter Fanconi anemia
  • p.Leu259_Leu260insTer Single submitter Fanconi anemia complementation group F
  • p.Met145fs Single submitter Fanconi anemia complementation group F
  • p.Met1Leu Single submitter Fanconi anemia
  • p.Phe248fs Single submitter FANCF-related disorder
  • p.Ser265Ter Single submitter Fanconi anemia complementation group F
  • p.Thr56fs Single submitter Fanconi anemia complementation group F
  • p.Trp26Ter Single submitter Fanconi anemia complementation group F

Conflicting classifications of pathogenicity 24

Benign 12

  • c.*106T>C Multiple submitters Fanconi anemia complementation group F
  • c.*207C>T Multiple submitters Fanconi anemia complementation group F
  • c.*632G>A Multiple submitters Fanconi anemia complementation group F
  • c.*738T>G Multiple submitters Fanconi anemia complementation group F
  • c.*819C>T Multiple submitters Fanconi anemia complementation group F
  • p.Ala208= Multiple submitters Fanconi anemia
  • p.Leu262= Multiple submitters Fanconi anemia
  • c.*1629C>T Single submitter Fanconi anemia complementation group F
  • c.*2123G>A Single submitter Fanconi anemia complementation group F
  • c.*319A>G Single submitter Fanconi anemia complementation group F
  • c.*461G>T Single submitter Fanconi anemia complementation group F
  • p.Ser132Gly Single submitter ovarian cancer

Benign/Likely benign 7

  • c.-10C>T Multiple submitters Fanconi anemia complementation group F
  • p.Ala186Val Multiple submitters hereditary neoplastic syndrome
  • p.Asn82= Multiple submitters Fanconi anemia
  • p.Leu129= Multiple submitters Fanconi anemia
  • p.Leu214= Multiple submitters Fanconi anemia complementation group F
  • p.Pro320Leu Multiple submitters Fanconi anemia
  • p.Val295Ile Multiple submitters Fanconi anemia

Likely benign 93

Uncertain significance 317

Showing the top 300 by review status; the full set is in the sitemap.