A1CF — 61 ClinVar variants
All ClinVar germline A1CF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
4 Benign · 2 Likely benign · 55 Uncertain significance
Full A1CF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- A1CF p.Ala462Ser Uncertain significance Single submitter
- A1CF p.Ala497Ser Uncertain significance Single submitter
- A1CF p.Arg137Gln Uncertain significance Single submitter
- A1CF p.Arg314Gln Uncertain significance Single submitter
- A1CF p.Arg371Thr Uncertain significance Single submitter
- A1CF p.Arg391Cys Uncertain significance Single submitter
- A1CF p.Asn253Ser Uncertain significance Single submitter
- A1CF p.Asp500Glu Uncertain significance Single submitter
- A1CF p.Asp522Asn Uncertain significance Single submitter
- A1CF p.Gln465Glu Uncertain significance Single submitter
- A1CF p.Glu217Val Uncertain significance Single submitter
- A1CF p.Glu244Gln Uncertain significance Single submitter
-
A1CF p.Gly36Glu
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- A1CF p.Gly389Ser Uncertain significance Single submitter
- A1CF p.Gly93Ser Uncertain significance Single submitter
- A1CF p.Ile373Val Uncertain significance Single submitter
- A1CF p.Ile436Val Uncertain significance Single submitter
- A1CF p.Ile446Phe Uncertain significance Single submitter
- A1CF p.Ile463Thr Uncertain significance Single submitter
- A1CF p.Ile73Val Uncertain significance Single submitter
- A1CF p.Leu238Ile Uncertain significance Single submitter
- A1CF p.Leu286Ser Uncertain significance Single submitter
- A1CF p.Leu291Val Uncertain significance Single submitter
- A1CF p.Leu399Met Uncertain significance Single submitter
- A1CF p.Leu558Ile Uncertain significance Single submitter
- A1CF p.Met246Leu Uncertain significance Single submitter
- A1CF p.Met322Ile Uncertain significance Single submitter
- A1CF p.Met426Val Uncertain significance Single submitter
- A1CF p.Met525Thr Uncertain significance Single submitter
- A1CF p.Met89Thr Uncertain significance Single submitter
- A1CF p.Pro337Leu Uncertain significance Single submitter
- A1CF p.Pro377Ser Uncertain significance Single submitter
- A1CF p.Pro433Ser Uncertain significance Single submitter
- A1CF p.Thr424Ile Uncertain significance Single submitter
- A1CF p.Thr424Ser Uncertain significance Single submitter
- A1CF p.Val140Ala Uncertain significance Single submitter
- A1CF p.Val159Phe Uncertain significance Single submitter
- A1CF p.Val540Leu Uncertain significance Single submitter
- A1CF p.Val547Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- A1CF p.Ala383Val Uncertain significance Single submitter
- A1CF p.Arg401Gln Uncertain significance Single submitter
- A1CF p.Asp70Asn Uncertain significance Single submitter
- A1CF p.Glu508Ala Uncertain significance Single submitter
- A1CF p.Gly257Asp Uncertain significance Single submitter
- A1CF p.Gly559Glu Uncertain significance Single submitter
- A1CF p.His488Pro Uncertain significance Single submitter
- A1CF p.Ile73Met Uncertain significance Single submitter
- A1CF p.Ile73Thr Uncertain significance Single submitter
- A1CF p.Met194Ile Uncertain significance Single submitter
- A1CF p.Pro51Thr Uncertain significance Single submitter
- A1CF p.Pro52Ala Uncertain significance Single submitter
- A1CF p.Ser378Phe Uncertain significance Single submitter
- A1CF p.Tyr341Cys Uncertain significance Single submitter
All A1CF variants
Benign 4
Likely benign 2
- p.Gly390Ser Multiple submitters
- p.Gly381= Single submitter
Uncertain significance 55
- c.100-6618G>A Single submitter
- c.100-6622G>A Single submitter
- p.Ala383Val Single submitter ⚠
- p.Ala462Ser Single submitter ⚠
- p.Ala497Ser Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg371Thr Single submitter ⚠
- p.Arg391Cys Single submitter ⚠
- p.Arg401Gln Single submitter ⚠
- p.Asn253Ser Single submitter ⚠
- p.Asp500Glu Single submitter ⚠
- p.Asp522Asn Single submitter ⚠
- p.Asp70Asn Single submitter ⚠
- p.Gln465Glu Single submitter ⚠
- p.Glu217Val Single submitter ⚠
- p.Glu244Gln Single submitter ⚠
- p.Glu508Ala Single submitter ⚠
- p.Gly257Asp Single submitter ⚠
- p.Gly36Glu Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Gly389Ser Single submitter ⚠
- p.Gly559Glu Single submitter ⚠
- p.Gly93Ser Single submitter ⚠
- p.His488Pro Single submitter ⚠
- p.Ile373Val Single submitter ⚠
- p.Ile436Val Single submitter ⚠
- p.Ile446Phe Single submitter ⚠
- p.Ile463Thr Single submitter ⚠
- p.Ile73Met Single submitter ⚠
- p.Ile73Thr Single submitter ⚠
- p.Ile73Val Single submitter ⚠
- p.Leu238Ile Single submitter ⚠
- p.Leu286Ser Single submitter ⚠
- p.Leu291Val Single submitter ⚠
- p.Leu399Met Single submitter ⚠
- p.Leu558Ile Single submitter ⚠
- p.Met194Ile Single submitter ⚠
- p.Met246Leu Single submitter ⚠
- p.Met322Ile Single submitter ⚠
- p.Met426Val Single submitter ⚠
- p.Met525Thr Single submitter ⚠
- p.Met89Thr Single submitter ⚠
- p.Pro337Leu Single submitter ⚠
- p.Pro377Ser Single submitter ⚠
- p.Pro433Ser Single submitter ⚠
- p.Pro51Thr Single submitter ⚠
- p.Pro52Ala Single submitter ⚠
- p.Ser378Phe Single submitter ⚠
- p.Thr424Ile Single submitter ⚠
- p.Thr424Ser Single submitter ⚠
- p.Tyr341Cys Single submitter ⚠
- p.Val140Ala Single submitter ⚠
- p.Val159Phe Single submitter ⚠
- p.Val540Leu Single submitter ⚠
- p.Val547Ala Single submitter ⚠