FHIT — 39 ClinVar variants
All ClinVar germline FHIT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 1 Benign · 7 Likely benign · 29 Uncertain significance
Full FHIT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FHIT p.Ala127Asp Uncertain significance Single submitter
- FHIT p.Ala141Ser Uncertain significance Single submitter
- FHIT p.Ala24Pro Uncertain significance Single submitter
- FHIT p.Arg46Cys Uncertain significance Single submitter
- FHIT p.Arg46His Uncertain significance Single submitter
- FHIT p.Arg51His Uncertain significance Single submitter
- FHIT p.Cys39Tyr Uncertain significance Single submitter
- FHIT p.Gly89Arg Uncertain significance Single submitter
- FHIT p.His72Arg Uncertain significance Single submitter
- FHIT p.Leu9Val Uncertain significance Single submitter
- FHIT p.Lys93Arg Uncertain significance Single submitter
- FHIT p.Phe16Leu Uncertain significance Single submitter
- FHIT p.Pro40Leu Uncertain significance Single submitter
- FHIT p.Ser81Cys Uncertain significance Single submitter
- FHIT p.Thr19Ile Uncertain significance Single submitter
- FHIT p.Thr67Ala Uncertain significance Single submitter
- FHIT p.Tyr114Cys Uncertain significance Single submitter
- FHIT p.Val144Ile Uncertain significance Single submitter
- FHIT p.Val65Gly Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- FHIT p.Asn110Ser Uncertain significance Single submitter
- FHIT p.Glu116Lys Likely benign Single submitter
- FHIT p.Glu138Lys Uncertain significance Single submitter
- FHIT p.Ser13Tyr Uncertain significance Single submitter
- FHIT p.Thr61Met Uncertain significance Single submitter
- FHIT p.Val95Ile Uncertain significance Single submitter
All FHIT variants
Pathogenic 1
- c.280-26365_280-26364del Single submitter hereditary breast ovarian cancer syndrome
Likely pathogenic 1
- c.103+32489_103+54184del Single submitter megacolon
Benign 1
- p.Ser2= Single submitter
Likely benign 7
- c.349-82457_349-82454del Single submitter hereditary breast ovarian cancer syndrome
- p.Glu116Lys Single submitter ⚠
- p.Leu142= Single submitter
- p.Phe23= Single submitter
- p.Val97Ile Single submitter
- c.104-64T>C No assertion criteria FHIT-related disorder
- p.Pro101Ser No assertion criteria FHIT-related disorder
Uncertain significance 29
- c.280-26275_280-26274del Single submitter hereditary breast carcinoma
- c.349-22633_349-22622del Single submitter familial ovarian cancer
- c.349-22663_349-22658dup Single submitter familial ovarian cancer
- c.349-22879_349-22871dup Single submitter familial ovarian cancer
- p.Ala127Asp Single submitter ⚠
- p.Ala141Ser Single submitter ⚠
- p.Ala24Pro Single submitter ⚠
- p.Arg46Cys Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Asn110Ser Single submitter ⚠
- p.Cys39Tyr Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.His72Arg Single submitter ⚠
- p.Leu9Val Single submitter ⚠
- p.Lys93Arg Single submitter ⚠
- p.Phe16Leu Single submitter ⚠
- p.Pro40Leu Single submitter ⚠
- p.Ser13Tyr Single submitter ⚠
- p.Ser81Cys Single submitter ⚠
- p.Thr19Ile Single submitter ⚠
- p.Thr61Met Single submitter ⚠
- p.Thr67Ala Single submitter ⚠
- p.Tyr114Cys Single submitter ⚠
- p.Val144Ile Single submitter ⚠
- p.Val31Ala Single submitter
- p.Val65Gly Single submitter ⚠
- p.Val95Ile Single submitter ⚠