AMBRA1 — 161 ClinVar variants
All ClinVar germline AMBRA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →
4 Benign · 10 Likely benign · 147 Uncertain significance
Full AMBRA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 145
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 102
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMBRA1 p.Ala1142Val Uncertain significance Single submitter
- AMBRA1 p.Ala1147Gly Uncertain significance Single submitter
- AMBRA1 p.Ala1147Val Uncertain significance Single submitter
- AMBRA1 p.Ala1288Thr Uncertain significance Single submitter
- AMBRA1 p.Ala355Thr Uncertain significance Single submitter
- AMBRA1 p.Arg1015His Uncertain significance Single submitter
- AMBRA1 p.Arg1068Gln Uncertain significance Single submitter
- AMBRA1 p.Arg1166Trp Uncertain significance Single submitter
- AMBRA1 p.Arg1187Cys Uncertain significance Single submitter
- AMBRA1 p.Arg11Gln Uncertain significance Single submitter
- AMBRA1 p.Arg1224Gln Uncertain significance Single submitter
- AMBRA1 p.Arg1229Gln Uncertain significance Single submitter
- AMBRA1 p.Arg1285Thr Uncertain significance Single submitter
-
AMBRA1 p.Arg1292Gly
Uncertain significance
Single submitter
AMBRA1-related disorder
- AMBRA1 p.Arg168Trp Uncertain significance Single submitter
- AMBRA1 p.Arg18Trp Uncertain significance Single submitter
- AMBRA1 p.Arg226His Uncertain significance Single submitter
- AMBRA1 p.Arg250Cys Uncertain significance Single submitter
- AMBRA1 p.Arg27Gln Uncertain significance Single submitter
- AMBRA1 p.Arg384His Uncertain significance Single submitter
- AMBRA1 p.Arg38Gln Uncertain significance Single submitter
- AMBRA1 p.Arg54Cys Uncertain significance Single submitter
- AMBRA1 p.Arg562His Uncertain significance Single submitter
- AMBRA1 p.Arg583Cys Uncertain significance Single submitter
- AMBRA1 p.Arg703Cys Uncertain significance Single submitter
- AMBRA1 p.Arg703His Uncertain significance Single submitter
- AMBRA1 p.Arg752Cys Uncertain significance Single submitter
- AMBRA1 p.Arg754His Uncertain significance Single submitter
- AMBRA1 p.Arg795Trp Uncertain significance Single submitter
- AMBRA1 p.Arg95Cys Uncertain significance Single submitter
- AMBRA1 p.Asn138Ser Uncertain significance Single submitter
- AMBRA1 p.Asn158Ser Uncertain significance Single submitter
- AMBRA1 p.Asn559Ile Uncertain significance Single submitter
- AMBRA1 p.Asp773Asn Uncertain significance Single submitter
- AMBRA1 p.Asp781Glu Uncertain significance Single submitter
- AMBRA1 p.Gln354Arg Uncertain significance Single submitter
- AMBRA1 p.Gln359Arg Uncertain significance Single submitter
- AMBRA1 p.Gln459Arg Uncertain significance Single submitter
- AMBRA1 p.Gln615Pro Uncertain significance Single submitter
- AMBRA1 p.Glu1046Lys Uncertain significance Single submitter
- AMBRA1 p.Glu633Gly Uncertain significance Single submitter
- AMBRA1 p.Glu933Gly Uncertain significance Single submitter
- AMBRA1 p.Gly1177Ser Uncertain significance Single submitter
- AMBRA1 p.Gly1213Glu Uncertain significance Single submitter
- AMBRA1 p.Gly613Asp Uncertain significance Single submitter
- AMBRA1 p.Gly668Glu Uncertain significance Single submitter
- AMBRA1 p.Gly845Ser Uncertain significance Single submitter
-
AMBRA1 p.His552Tyr
Uncertain significance
Single submitter
AMBRA1-related disorder
- AMBRA1 p.His676Asp Uncertain significance Single submitter
- AMBRA1 p.His985Tyr Uncertain significance Single submitter
- AMBRA1 p.Ile699Val Uncertain significance Single submitter
- AMBRA1 p.Leu1268His Uncertain significance Single submitter
- AMBRA1 p.Leu998Pro Uncertain significance Single submitter
- AMBRA1 p.Lys7Gln Uncertain significance Single submitter
- AMBRA1 p.Met23Val Uncertain significance Single submitter
- AMBRA1 p.Met679Ile Uncertain significance Single submitter
- AMBRA1 p.Met952Val Uncertain significance Single submitter
- AMBRA1 p.Phe606Val Uncertain significance Single submitter
- AMBRA1 p.Pro105Ser Uncertain significance Single submitter
- AMBRA1 p.Pro1206Leu Uncertain significance Single submitter
- AMBRA1 p.Pro1239Leu Uncertain significance Single submitter
- AMBRA1 p.Pro1253Ser Uncertain significance Single submitter
- AMBRA1 p.Pro1255Ser Uncertain significance Single submitter
- AMBRA1 p.Pro211Ala Uncertain significance Single submitter
- AMBRA1 p.Pro214Leu Uncertain significance Single submitter
- AMBRA1 p.Pro351Arg Uncertain significance Single submitter
- AMBRA1 p.Pro437Ser Uncertain significance Single submitter
- AMBRA1 p.Pro473Leu Uncertain significance Single submitter
- AMBRA1 p.Pro525Ser Uncertain significance Single submitter
- AMBRA1 p.Pro617Leu Uncertain significance Single submitter
- AMBRA1 p.Pro640Leu Uncertain significance Single submitter
- AMBRA1 p.Ser1063Thr Uncertain significance Single submitter
- AMBRA1 p.Ser1192Ala Uncertain significance Single submitter
- AMBRA1 p.Ser1259Ala Uncertain significance Single submitter
- AMBRA1 p.Ser142Cys Uncertain significance Single submitter
- AMBRA1 p.Ser221Tyr Uncertain significance Single submitter
- AMBRA1 p.Ser372Gly Uncertain significance Single submitter
- AMBRA1 p.Ser400Tyr Uncertain significance Single submitter
- AMBRA1 p.Ser461Phe Uncertain significance Single submitter
- AMBRA1 p.Ser597Gly Uncertain significance Single submitter
- AMBRA1 p.Ser608Thr Uncertain significance Single submitter
- AMBRA1 p.Ser684Thr Uncertain significance Single submitter
- AMBRA1 p.Ser740Gly Uncertain significance Single submitter
- AMBRA1 p.Ser758Thr Uncertain significance Single submitter
- AMBRA1 p.Ser894Gly Uncertain significance Single submitter
- AMBRA1 p.Ser946Leu Uncertain significance Single submitter
-
AMBRA1 p.Thr1055Met
Uncertain significance
Single submitter
AMBRA1-related disorder
- AMBRA1 p.Thr1247Ile Uncertain significance Single submitter
- AMBRA1 p.Thr1267Asn Uncertain significance Single submitter
- AMBRA1 p.Thr382Met Uncertain significance Single submitter
- AMBRA1 p.Thr391Ser Uncertain significance Single submitter
- AMBRA1 p.Thr971Ala Uncertain significance Single submitter
- AMBRA1 p.Tyr463Phe Uncertain significance Single submitter
- AMBRA1 p.Val1059Ile Uncertain significance Single submitter
- AMBRA1 p.Val805Ile Uncertain significance Single submitter
- AMBRA1 p.Val838Ile Uncertain significance Single submitter
- AMBRA1 p.Val880Met Uncertain significance Single submitter
- AMBRA1 p.Val997Ile Uncertain significance Single submitter
-
AMBRA1 p.Ala144Val
Uncertain significance
No assertion criteria
esophageal atresia
-
AMBRA1 p.Leu364Phe
Uncertain significance
No assertion criteria
neural tube defect
-
AMBRA1 p.Ser833Phe
Uncertain significance
No assertion criteria
neural tube defect
-
AMBRA1 p.Thr80Met
Uncertain significance
No assertion criteria
neural tube defect
Predictors split 43
The independent predictors disagree with each other — read with care.
- AMBRA1 p.Ala984Val Uncertain significance Single submitter
- AMBRA1 p.Arg1037Gln Uncertain significance Single submitter
- AMBRA1 p.Arg1153Lys Uncertain significance Single submitter
- AMBRA1 p.Arg1187Leu Uncertain significance Single submitter
- AMBRA1 p.Arg1229Trp Uncertain significance Single submitter
- AMBRA1 p.Arg1241Trp Uncertain significance Single submitter
- AMBRA1 p.Arg1296Trp Uncertain significance Single submitter
- AMBRA1 p.Arg18Gln Uncertain significance Single submitter
- AMBRA1 p.Arg392Cys Uncertain significance Single submitter
- AMBRA1 p.Arg429Cys Uncertain significance Single submitter
- AMBRA1 p.Arg586Ile Uncertain significance Single submitter
- AMBRA1 p.Arg621Trp Uncertain significance Single submitter
- AMBRA1 p.Arg747His Uncertain significance Single submitter
- AMBRA1 p.Arg792His Uncertain significance Single submitter
- AMBRA1 p.Arg795Leu Uncertain significance Single submitter
- AMBRA1 p.Arg95His Uncertain significance Single submitter
- AMBRA1 p.Asn158Asp Uncertain significance Single submitter
- AMBRA1 p.Asn491Tyr Uncertain significance Single submitter
- AMBRA1 p.Asp739Asn Uncertain significance Single submitter
- AMBRA1 p.Cys501Arg Uncertain significance Single submitter
- AMBRA1 p.Glu555Ala Uncertain significance Single submitter
- AMBRA1 p.Glu695Asp Uncertain significance Single submitter
- AMBRA1 p.Gly1083Val Uncertain significance Single submitter
- AMBRA1 p.Gly1135Asp Uncertain significance Single submitter
- AMBRA1 p.His89Asn Uncertain significance Single submitter
- AMBRA1 p.Leu244Val Uncertain significance Single submitter
- AMBRA1 p.Leu534Phe Uncertain significance Single submitter
- AMBRA1 p.Leu68Phe Uncertain significance Single submitter
- AMBRA1 p.Lys45Glu Uncertain significance Single submitter
- AMBRA1 p.Pro799Ser Uncertain significance Single submitter
- AMBRA1 p.Pro806Gln Uncertain significance Single submitter
- AMBRA1 p.Pro916Ser Uncertain significance Single submitter
- AMBRA1 p.Ser394Cys Uncertain significance Single submitter
- AMBRA1 p.Ser444Leu Uncertain significance Single submitter
- AMBRA1 p.Ser592Tyr Uncertain significance Single submitter
- AMBRA1 p.Ser684Phe Uncertain significance Single submitter
- AMBRA1 p.Ser70Thr Uncertain significance Single submitter
- AMBRA1 p.Thr1071Ile Uncertain significance Single submitter
- AMBRA1 p.Thr1194Met Uncertain significance Single submitter
- AMBRA1 p.Thr148Met Uncertain significance Single submitter
-
AMBRA1 p.Ala141Val
Uncertain significance
No assertion criteria
AMBRA1-related disorder
-
AMBRA1 p.Met974Val
Uncertain significance
No assertion criteria
neural tube defect
-
AMBRA1 p.Ser1043Phe
Uncertain significance
No assertion criteria
neural tube defect
All AMBRA1 variants
Benign 4
- p.Ala927= Multiple submitters
- p.Ser434= Multiple submitters
- p.Ser492= Multiple submitters
- c.2073-5335C>T No assertion criteria AMBRA1-related disorder
Likely benign 10
- p.Ala1096Thr Single submitter
- p.Arg184= Single submitter
- p.Arg807= Single submitter
- p.Asn1274Ser Single submitter
- p.Pro1123= Single submitter
- p.Ser1143Gly Single submitter
- p.Ser1259Pro Single submitter
- p.Thr1127Ala Single submitter
- p.Thr358Ala Single submitter
- p.Asn782Ser No assertion criteria AMBRA1-related disorder
Uncertain significance 147
- p.Ala1142Val Single submitter ⚠
- p.Ala1147Gly Single submitter ⚠
- p.Ala1147Val Single submitter ⚠
- p.Ala1288Thr Single submitter ⚠
- p.Ala355Thr Single submitter ⚠
- p.Ala984Val Single submitter ⚠
- p.Arg1015His Single submitter ⚠
- p.Arg1037Gln Single submitter ⚠
- p.Arg1068Gln Single submitter ⚠
- p.Arg1153Lys Single submitter ⚠
- p.Arg1166Trp Single submitter ⚠
- p.Arg1187Cys Single submitter ⚠
- p.Arg1187Leu Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg1224Gln Single submitter ⚠
- p.Arg1229Gln Single submitter ⚠
- p.Arg1229Trp Single submitter ⚠
- p.Arg1241Trp Single submitter ⚠
- p.Arg1285Thr Single submitter ⚠
- p.Arg1292Gly Single submitter AMBRA1-related disorder ⚠
- p.Arg1296Trp Single submitter ⚠
- p.Arg168Trp Single submitter ⚠
- p.Arg18Gln Single submitter ⚠
- p.Arg18Trp Single submitter ⚠
- p.Arg226His Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Arg384His Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Arg392Cys Single submitter ⚠
- p.Arg429Cys Single submitter ⚠
- p.Arg54Cys Single submitter ⚠
- p.Arg562His Single submitter ⚠
- p.Arg583Cys Single submitter ⚠
- p.Arg586Ile Single submitter ⚠
- p.Arg621Trp Single submitter ⚠
- p.Arg703Cys Single submitter ⚠
- p.Arg703His Single submitter ⚠
- p.Arg747His Single submitter ⚠
- p.Arg752Cys Single submitter ⚠
- p.Arg754His Single submitter ⚠
- p.Arg792His Single submitter ⚠
- p.Arg795Leu Single submitter ⚠
- p.Arg795Trp Single submitter ⚠
- p.Arg95Cys Single submitter ⚠
- p.Arg95His Single submitter ⚠
- p.Asn138Ser Single submitter ⚠
- p.Asn158Asp Single submitter ⚠
- p.Asn158Ser Single submitter ⚠
- p.Asn491Tyr Single submitter ⚠
- p.Asn559Ile Single submitter ⚠
- p.Asp739Asn Single submitter ⚠
- p.Asp773Asn Single submitter ⚠
- p.Asp781Glu Single submitter ⚠
- p.Cys501Arg Single submitter ⚠
- p.Gln354Arg Single submitter ⚠
- p.Gln359Arg Single submitter ⚠
- p.Gln459Arg Single submitter ⚠
- p.Gln615Pro Single submitter ⚠
- p.Glu1046Lys Single submitter ⚠
- p.Glu555Ala Single submitter ⚠
- p.Glu633Gly Single submitter ⚠
- p.Glu695Asp Single submitter ⚠
- p.Glu933Gly Single submitter ⚠
- p.Gly1083Val Single submitter ⚠
- p.Gly1135Asp Single submitter ⚠
- p.Gly1177Ser Single submitter ⚠
- p.Gly1213Glu Single submitter ⚠
- p.Gly613Asp Single submitter ⚠
- p.Gly668Glu Single submitter ⚠
- p.Gly845Ser Single submitter ⚠
- p.His552Tyr Single submitter AMBRA1-related disorder ⚠
- p.His676Asp Single submitter ⚠
- p.His89Asn Single submitter ⚠
- p.His985Tyr Single submitter ⚠
- p.Ile699Val Single submitter ⚠
- p.Leu1268His Single submitter ⚠
- p.Leu244Val Single submitter ⚠
- p.Leu534Phe Single submitter ⚠
- p.Leu68Phe Single submitter ⚠
- p.Leu998Pro Single submitter ⚠
- p.Lys45Glu Single submitter ⚠
- p.Lys7Gln Single submitter ⚠
- p.Met23Val Single submitter ⚠
- p.Met679Ile Single submitter ⚠
- p.Met952Val Single submitter ⚠
- p.Phe606Val Single submitter ⚠
- p.Pro105Ser Single submitter ⚠
- p.Pro1206Leu Single submitter ⚠
- p.Pro1239Leu Single submitter ⚠
- p.Pro1253Ser Single submitter ⚠
- p.Pro1255Ser Single submitter ⚠
- p.Pro211Ala Single submitter ⚠
- p.Pro214Leu Single submitter ⚠
- p.Pro351Arg Single submitter ⚠
- p.Pro437Ser Single submitter ⚠
- p.Pro473Leu Single submitter ⚠
- p.Pro525Ser Single submitter ⚠
- p.Pro617Leu Single submitter ⚠
- p.Pro640Leu Single submitter ⚠
- p.Pro799Ser Single submitter ⚠
- p.Pro806Gln Single submitter ⚠
- p.Pro916Ser Single submitter ⚠
- p.Ser1063Thr Single submitter ⚠
- p.Ser1192Ala Single submitter ⚠
- p.Ser1259Ala Single submitter ⚠
- p.Ser142Cys Single submitter ⚠
- p.Ser221Tyr Single submitter ⚠
- p.Ser372Gly Single submitter ⚠
- p.Ser394Cys Single submitter ⚠
- p.Ser400Tyr Single submitter ⚠
- p.Ser444Leu Single submitter ⚠
- p.Ser461Phe Single submitter ⚠
- p.Ser592Tyr Single submitter ⚠
- p.Ser597Gly Single submitter ⚠
- p.Ser608Thr Single submitter ⚠
- p.Ser684Phe Single submitter ⚠
- p.Ser684Thr Single submitter ⚠
- p.Ser70Thr Single submitter ⚠
- p.Ser740Gly Single submitter ⚠
- p.Ser758Thr Single submitter ⚠
- p.Ser894Gly Single submitter ⚠
- p.Ser946Leu Single submitter ⚠
- p.Thr1055Met Single submitter AMBRA1-related disorder ⚠
- p.Thr1071Ile Single submitter ⚠
- p.Thr1194Met Single submitter ⚠
- p.Thr1247Ile Single submitter ⚠
- p.Thr1267Asn Single submitter ⚠
- p.Thr148Met Single submitter ⚠
- p.Thr382Met Single submitter ⚠
- p.Thr391Ser Single submitter ⚠
- p.Thr971Ala Single submitter ⚠
- p.Tyr463Phe Single submitter ⚠
- p.Tyr715Ter Single submitter
- p.Val1059Ile Single submitter ⚠
- p.Val805Ile Single submitter ⚠
- p.Val838Ile Single submitter ⚠
- p.Val880Met Single submitter ⚠
- p.Val997Ile Single submitter ⚠
- c.2073-5603G>A No assertion criteria AMBRA1-related disorder
- p.Ala141Val No assertion criteria AMBRA1-related disorder ⚠
- p.Ala144Val No assertion criteria esophageal atresia ⚠
- p.Leu364Phe No assertion criteria neural tube defect ⚠
- p.Met974Val No assertion criteria neural tube defect ⚠
- p.Ser1043Phe No assertion criteria neural tube defect ⚠
- p.Ser833Phe No assertion criteria neural tube defect ⚠
- p.Thr80Met No assertion criteria neural tube defect ⚠