ATG2A — 328 ClinVar variants

All ClinVar germline ATG2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 293 flagged for review →

1 Conflicting · 5 Benign · 24 Likely benign · 298 Uncertain significance

Full ATG2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 293

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 247

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 247

Predictors split 46

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

All ATG2A variants

Conflicting classifications of pathogenicity 1

p.Val997Met Single submitter ⚠

Benign 5

p.Ala857Val Multiple submitters
p.Pro291= Multiple submitters
p.Val1825Ile Multiple submitters
p.Val664Met Multiple submitters
p.Asn839= Single submitter

Likely benign 24

c.4465-4A>G Single submitter
p.Ala112Val Single submitter
p.Ala279Val Single submitter
p.Ala650= Single submitter
p.Ala857Thr Single submitter
p.Arg1514Gln Single submitter
p.Arg1621His Single submitter
p.Arg394His Single submitter
p.Arg553Gln Single submitter
p.Arg608His Single submitter
p.Arg644Gln Single submitter
p.Asp1285= Single submitter
p.Asp396Asn Single submitter
p.Gly1650Ser Single submitter
p.Ile704Thr Single submitter
p.Leu922Ser Single submitter
p.Pro1368= Single submitter
p.Ser1910Asn Single submitter
p.Thr1275Met Single submitter
p.Thr457Ala Single submitter
p.Thr531Ala Single submitter
p.Val1390Ile Single submitter
p.Val1611Met Single submitter
p.Val434Met Single submitter

Uncertain significance 298

p.Ala1033Gly Single submitter ⚠
p.Ala1162Val Single submitter
p.Ala1367Val Single submitter ⚠
p.Ala1505Glu Single submitter ⚠
p.Ala1904Thr Single submitter ⚠
p.Ala204Thr Single submitter ⚠
p.Ala443Thr Single submitter ⚠
p.Ala599Ser Single submitter ⚠
p.Ala627Thr Single submitter ⚠
p.Ala660Val Single submitter ⚠
p.Ala663Pro Single submitter ⚠
p.Ala856Thr Single submitter ⚠
p.Ala899Val Single submitter ⚠
p.Ala912Val Single submitter ⚠
p.Ala996Thr Single submitter ⚠
p.Arg1031Gln Single submitter ⚠
p.Arg1041Gln Single submitter ⚠
p.Arg1041Trp Single submitter ⚠
p.Arg1068Gln Single submitter ⚠
p.Arg1068Trp Single submitter ⚠
p.Arg1075Cys Single submitter ⚠
p.Arg108His Single submitter ⚠
p.Arg109Trp Single submitter ⚠
p.Arg1131Cys Single submitter ⚠
p.Arg1131His Single submitter ⚠
p.Arg1177Gln Single submitter ⚠
p.Arg1178Gln Single submitter ⚠
p.Arg1212Cys Single submitter ⚠
p.Arg1248Pro Single submitter ⚠
p.Arg1281His Single submitter ⚠
p.Arg1292Cys Single submitter ⚠
p.Arg1292His Single submitter ⚠
p.Arg1295Trp Single submitter ⚠
p.Arg1320Trp Single submitter ⚠
p.Arg137Gln Single submitter ⚠
p.Arg137Trp Single submitter ⚠
p.Arg1398Trp Single submitter ⚠
p.Arg1418Gln Single submitter ⚠
p.Arg1422His Single submitter ⚠
p.Arg1434Gln Single submitter ⚠
p.Arg1452Gly Single submitter ⚠
p.Arg1457Cys Single submitter ⚠
p.Arg1457His Single submitter ⚠
p.Arg1463Gln Single submitter ⚠
p.Arg1518His Single submitter ⚠
p.Arg1529Gln Single submitter ⚠
p.Arg1548Gln Single submitter ⚠
p.Arg1579His Single submitter ⚠
p.Arg165Gln Single submitter ⚠
p.Arg1737Cys Single submitter ⚠
p.Arg1762Trp Single submitter ⚠
p.Arg1784Gln Single submitter ⚠
p.Arg1803Trp Single submitter ⚠
p.Arg1827Cys Single submitter ⚠
p.Arg1827His Single submitter ⚠
p.Arg1836Gln Single submitter ⚠
p.Arg1836Trp Single submitter ⚠
p.Arg1839Cys Single submitter ⚠
p.Arg1839Leu Single submitter ⚠
p.Arg1840Gly Single submitter ⚠
p.Arg1891His Single submitter ⚠
p.Arg1916His Single submitter ⚠
p.Arg194Cys Single submitter ⚠
p.Arg206Gln Single submitter ⚠
p.Arg400His Single submitter ⚠
p.Arg400Leu Single submitter ⚠
p.Arg401Gln Single submitter ⚠
p.Arg401Trp Single submitter ⚠
p.Arg470Gln Single submitter ⚠
p.Arg478Leu Single submitter ⚠
p.Arg506Gln Single submitter ⚠
p.Arg506Trp Single submitter ⚠
p.Arg559His Single submitter ⚠
p.Arg565Cys Single submitter ⚠
p.Arg566Cys Single submitter ⚠
p.Arg571Gln Single submitter ⚠
p.Arg573Gln Single submitter ⚠
p.Arg573Trp Single submitter ⚠
p.Arg602Gln Single submitter ⚠
p.Arg602Trp Single submitter
p.Arg608Cys Single submitter ⚠
p.Arg640Leu Single submitter ⚠
p.Arg646His Single submitter ⚠
p.Arg665Gln Single submitter ⚠
p.Arg665Trp Single submitter ⚠
p.Arg670Gln Single submitter ⚠
p.Arg717Cys Single submitter ⚠
p.Arg717His Single submitter ⚠
p.Arg770Trp Single submitter ⚠
p.Arg781Thr Single submitter ⚠
p.Arg810His Single submitter ⚠
p.Arg936Gln Single submitter ⚠
p.Arg97Cys Single submitter ⚠
p.Asn1215Ser Single submitter ⚠
p.Asn1462Ser Single submitter ⚠
p.Asn1462Thr Single submitter ⚠
p.Asn354Ile Single submitter ⚠
p.Asn361Asp Single submitter ⚠
p.Asn60Ile Single submitter ⚠
p.Asp1094Glu Single submitter
p.Asp1094His Single submitter ⚠
p.Asp1225Glu Single submitter ⚠
p.Asp1831Val Single submitter ⚠
p.Asp1846Asn Single submitter ⚠
p.Asp1922Asn Single submitter ⚠
p.Asp215Tyr Single submitter ⚠
p.Asp36His Single submitter ⚠
p.Asp657Glu Single submitter ⚠
p.Asp700Asn Single submitter ⚠
p.Asp723Asn Single submitter ⚠
p.Asp723Tyr Single submitter ⚠
p.Asp896Glu Single submitter ⚠
p.Asp998His Single submitter ⚠
p.Cys124Arg Single submitter ⚠
p.Cys1458Phe Single submitter ⚠
p.Cys698Phe Single submitter ⚠
p.Cys715Tyr Single submitter ⚠
p.Gln1471Arg Single submitter ⚠
p.Gln1756His Single submitter ⚠
p.Gln1783Arg Single submitter ⚠
p.Gln1918His Single submitter ⚠
p.Gln210Leu Single submitter ⚠
p.Gln480Arg Single submitter ⚠
p.Glu1082Lys Single submitter ⚠
p.Glu1172Val Single submitter ⚠
p.Glu1190Lys Single submitter ⚠
p.Glu1201Lys Single submitter ⚠
p.Glu1210Gln Single submitter ⚠
p.Glu1291Lys Single submitter ⚠
p.Glu1343Gln Single submitter ⚠
p.Glu145Lys Single submitter ⚠
p.Glu1483Gln Single submitter ⚠
p.Glu1633Lys Single submitter ⚠
p.Glu1640Lys Single submitter ⚠
p.Glu1706Gln Single submitter ⚠
p.Glu238Lys Single submitter ⚠
p.Glu310Lys Single submitter ⚠
p.Glu67Gln Single submitter ⚠
p.Glu681Gly Single submitter ⚠
p.Glu71Gln Single submitter ⚠
p.Glu814Gln Single submitter ⚠
p.Glu81Lys Single submitter ⚠
p.Glu985Lys Single submitter ⚠
p.Gly100Ser Single submitter ⚠
p.Gly1042Glu Single submitter ⚠
p.Gly1042Val Single submitter ⚠
p.Gly1332Val Single submitter ⚠
p.Gly1354Ala Single submitter ⚠
p.Gly1371Asp Single submitter ⚠
p.Gly1387Ser Single submitter ⚠
p.Gly1441Ser Single submitter ⚠
p.Gly1475Arg Single submitter ⚠
p.Gly1573Arg Single submitter ⚠
p.Gly1607Ser Single submitter ⚠
p.Gly183Asp Single submitter ⚠
p.Gly253Ser Single submitter ⚠
p.Gly280Glu Single submitter ⚠
p.Gly311Asp Single submitter ⚠
p.Gly311Val Single submitter ⚠
p.Gly410Asp Single submitter ⚠
p.Gly468Val Single submitter ⚠
p.Gly547Ala Single submitter ⚠
p.Gly687Ser Single submitter ⚠
p.Gly703Val Single submitter ⚠
p.Gly864Arg Single submitter ⚠
p.Gly864Ser Single submitter ⚠
p.Gly909Ser Single submitter ⚠
p.His1044Pro Single submitter ⚠
p.His1057Gln Single submitter ⚠
p.His217Pro Single submitter ⚠
p.His454Tyr Single submitter ⚠
p.His53Tyr Single submitter ⚠
p.Ile160Thr Single submitter ⚠
p.Ile1675Met Single submitter ⚠
p.Ile1697Val Single submitter ⚠
p.Ile1919Met Single submitter ⚠
p.Ile330Thr Single submitter ⚠
p.Leu1188Arg Single submitter ⚠
p.Leu1230Met Single submitter ⚠
p.Leu1406Met Single submitter ⚠
p.Leu1702Phe Single submitter ⚠
p.Leu1804Trp Single submitter ⚠
p.Leu289Val Single submitter ⚠
p.Leu382His Single submitter ⚠
p.Leu475Val Single submitter ⚠
p.Leu652Met Single submitter primary ovarian failure ⚠
p.Leu696Val Single submitter ⚠
p.Leu808Gln Single submitter ⚠
p.Leu929Met Single submitter ⚠
p.Leu984Met Single submitter ⚠
p.Lys168Gln Single submitter ⚠
p.Lys168Thr Single submitter ⚠
p.Lys1738Arg Single submitter ⚠
p.Met1045Thr Single submitter ⚠
p.Met1686Ile Single submitter ⚠
p.Met1751Ile Single submitter ⚠
p.Met1779Leu Single submitter ⚠
p.Met259Thr Single submitter ⚠
p.Met421Thr Single submitter ⚠
p.Met421Val Single submitter ⚠
p.Met513Val Single submitter ⚠
p.Met66Thr Single submitter ⚠
p.Phe1396Val Single submitter ⚠
p.Phe459Tyr Single submitter ⚠
p.Pro1003Arg Single submitter ⚠
p.Pro1009Ser Single submitter ⚠
p.Pro1014Arg Single submitter ⚠
p.Pro1014Leu Single submitter ⚠
p.Pro107Thr Single submitter
p.Pro1246Arg Single submitter ⚠
p.Pro1246Gln Single submitter ⚠
p.Pro1246Thr Single submitter ⚠
p.Pro1272Ala Single submitter ⚠
p.Pro1325Ala Single submitter ⚠
p.Pro1325Leu Single submitter ⚠
p.Pro1329Arg Single submitter ⚠
p.Pro1333Ser Single submitter ⚠
p.Pro1386Arg Single submitter ⚠
p.Pro141Leu Single submitter ⚠
p.Pro1515Leu Single submitter ⚠
p.Pro1584Ser Single submitter ⚠
p.Pro182Leu Single submitter ⚠
p.Pro1895Leu Single submitter ⚠
p.Pro213Leu Single submitter ⚠
p.Pro220Thr Single submitter ⚠
p.Pro240Leu Single submitter ⚠
p.Pro249His Single submitter ⚠
p.Pro416Ala Single submitter ⚠
p.Pro449Arg Single submitter ⚠
p.Pro543Arg Single submitter ⚠
p.Pro572Ser Single submitter ⚠
p.Pro616His Single submitter ⚠
p.Pro825Ala Single submitter ⚠
p.Ser1263Arg Single submitter ⚠
p.Ser1301Pro Single submitter ⚠
p.Ser1336Asn Single submitter ⚠
p.Ser1402Arg Single submitter ⚠
p.Ser144Phe Single submitter ⚠
p.Ser1459Pro Single submitter ⚠
p.Ser1671Pro Single submitter ⚠
p.Ser1820Phe Single submitter ⚠
p.Ser254Asn Single submitter ⚠
p.Ser373Thr Single submitter ⚠
p.Ser39Asn Single submitter ⚠
p.Ser425Leu Single submitter ⚠
p.Ser684Ile Single submitter ⚠
p.Ser746Ile Single submitter ⚠
p.Ser79Phe Single submitter ⚠
p.Ser812Ile Single submitter ⚠
p.Ser860Leu Single submitter ⚠
p.Ser878Thr Single submitter ⚠
p.Ser892Leu Single submitter ⚠
p.Thr1020Ala Single submitter ⚠
p.Thr1107Met Single submitter ⚠
p.Thr1200Ile Single submitter ⚠
p.Thr1253Met Single submitter ⚠
p.Thr1403Met Single submitter ⚠
p.Thr1470Met Single submitter ⚠
p.Thr1642Ala Single submitter ⚠
p.Thr1670Met Single submitter ⚠
p.Thr1883Arg Single submitter ⚠
p.Thr1883Met Single submitter ⚠
p.Thr1896Ile Single submitter ⚠
p.Thr1905Met Single submitter ⚠
p.Thr491Met Single submitter ⚠
p.Thr503Lys Single submitter ⚠
p.Thr503Met Single submitter ⚠
p.Thr503Ser Single submitter ⚠
p.Thr531Ile Single submitter ⚠
p.Thr632Met Single submitter ⚠
p.Thr642Met Single submitter ⚠
p.Thr697Asn Single submitter ⚠
p.Thr889Ile Single submitter ⚠
p.Thr938Ala Single submitter ⚠
p.Trp499Arg Single submitter ⚠
p.Trp749Arg Single submitter ⚠
p.Tyr1077Ser Single submitter ⚠
p.Tyr1103His Single submitter ⚠
p.Tyr705Phe Single submitter ⚠
p.Val1095Met Single submitter ⚠
p.Val1237Ile Single submitter ⚠
p.Val1427Ile Single submitter ⚠
p.Val1523Met Single submitter
p.Val1580Ile Single submitter ⚠
p.Val1639Ile Single submitter ⚠
p.Val1684Ile Single submitter ⚠
p.Val1721Met Single submitter ⚠
p.Val176Met Single submitter ⚠
p.Val1872Leu Single submitter ⚠
p.Val1872Met Single submitter
p.Val1886Met Single submitter ⚠
p.Val191Ile Single submitter ⚠
p.Val216Leu Single submitter ⚠
p.Val216Met Single submitter ⚠
p.Val263Met Single submitter ⚠
p.Val393Leu Single submitter ⚠
p.Val495Met Single submitter ⚠
p.Val595Met Single submitter ⚠