ABCC1 — 206 ClinVar variants
All ClinVar germline ABCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
1 Pathogenic · 1 Conflicting · 17 Benign · 2 Benign/Likely benign · 35 Likely benign · 150 Uncertain significance
Full ABCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ABCC1 p.Asn590Ser
Pathogenic
No assertion criteria
hearing loss, autosomal dominant 77
Predictors lean, ClinVar uncertain 70
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCC1 p.Thr1464Met Uncertain significance Multiple submitters
- ABCC1 p.Ala1029Thr Uncertain significance Single submitter
- ABCC1 p.Ala1115Val Uncertain significance Single submitter
- ABCC1 p.Ala1260Asp Uncertain significance Single submitter
- ABCC1 p.Ala1528Val Uncertain significance Single submitter
- ABCC1 p.Ala213Ser Uncertain significance Single submitter
- ABCC1 p.Ala654Val Uncertain significance Single submitter
- ABCC1 p.Arg1249Leu Uncertain significance Single submitter
- ABCC1 p.Arg593Trp Uncertain significance Single submitter
- ABCC1 p.Arg647Ser Uncertain significance Single submitter
- ABCC1 p.Arg858Gln Uncertain significance Single submitter
- ABCC1 p.Asn1156Ser Uncertain significance Single submitter
- ABCC1 p.Asn310Lys Uncertain significance Single submitter
- ABCC1 p.Asn510Ser Uncertain significance Single submitter
- ABCC1 p.Asp1081His Uncertain significance Single submitter
- ABCC1 p.Asp1420Glu Uncertain significance Single submitter
- ABCC1 p.Asp193His Uncertain significance Single submitter
- ABCC1 p.Asp88His Uncertain significance Single submitter
- ABCC1 p.Cys148Trp Uncertain significance Single submitter
- ABCC1 p.Gln1186Arg Uncertain significance Single submitter
- ABCC1 p.Glu1079Asp Uncertain significance Single submitter
- ABCC1 p.Glu1184Asp Uncertain significance Single submitter
- ABCC1 p.Glu1321Gly Uncertain significance Single submitter
- ABCC1 p.Glu670Lys Uncertain significance Single submitter
- ABCC1 p.Glu763Lys Uncertain significance Single submitter
- ABCC1 p.Glu892Ala Uncertain significance Single submitter
- ABCC1 p.Gly1324Ser Uncertain significance Single submitter
- ABCC1 p.Gly639Arg Uncertain significance Single submitter
- ABCC1 p.Gly683Arg Uncertain significance Single submitter
- ABCC1 p.Ile100Thr Uncertain significance Single submitter
- ABCC1 p.Ile1106Val Uncertain significance Single submitter
- ABCC1 p.Ile228Val Uncertain significance Single submitter
- ABCC1 p.Ile301Leu Uncertain significance Single submitter
- ABCC1 p.Ile704Val Uncertain significance Single submitter
- ABCC1 p.Ile838Thr Uncertain significance Single submitter
- ABCC1 p.Ile839Ser Uncertain significance Single submitter
- ABCC1 p.Ile83Val Uncertain significance Single submitter
- ABCC1 p.Ile979Val Uncertain significance Single submitter
- ABCC1 p.Leu119Pro Uncertain significance Single submitter
- ABCC1 p.Leu1462Val Uncertain significance Single submitter
- ABCC1 p.Leu186Arg Uncertain significance Single submitter
- ABCC1 p.Leu57Pro Uncertain significance Single submitter
- ABCC1 p.Leu613Pro Uncertain significance Single submitter
- ABCC1 p.Leu981Pro Uncertain significance Single submitter
- ABCC1 p.Lys31Met Uncertain significance Single submitter
- ABCC1 p.Lys941Glu Uncertain significance Single submitter
- ABCC1 p.Met1095Val Uncertain significance Single submitter
- ABCC1 p.Met138Val Uncertain significance Single submitter
- ABCC1 p.Met427Thr Uncertain significance Single submitter
- ABCC1 p.Met900Thr Uncertain significance Single submitter
- ABCC1 p.Met948Ile Uncertain significance Single submitter
- ABCC1 p.Phe1295Leu Uncertain significance Single submitter
- ABCC1 p.Phe93Tyr Uncertain significance Single submitter
- ABCC1 p.Pro1390Ser Uncertain significance Single submitter
- ABCC1 p.Pro285Thr Uncertain significance Single submitter
- ABCC1 p.Pro627Ala Uncertain significance Single submitter
- ABCC1 p.Pro889Leu Uncertain significance Single submitter
- ABCC1 p.Ser1034Thr Uncertain significance Single submitter
- ABCC1 p.Ser1045Phe Uncertain significance Single submitter
- ABCC1 p.Thr1457Met Uncertain significance Single submitter
- ABCC1 p.Thr174Ser Uncertain significance Single submitter
- ABCC1 p.Thr641Met Uncertain significance Single submitter
- ABCC1 p.Trp1276Arg Uncertain significance Single submitter
- ABCC1 p.Tyr1019Cys Uncertain significance Single submitter
- ABCC1 p.Tyr1126Ser Uncertain significance Single submitter
- ABCC1 p.Tyr1267Cys Uncertain significance Single submitter
- ABCC1 p.Tyr789Asn Uncertain significance Single submitter
- ABCC1 p.Val256Ile Uncertain significance Single submitter
- ABCC1 p.Val84Ile Uncertain significance Single submitter
-
ABCC1 p.Arg723Gln
Uncertain significance
No assertion criteria
hereditary breast carcinoma
Predictors split 81
The independent predictors disagree with each other — read with care.
- ABCC1 p.Val1146Ile Benign Multiple submitters
- ABCC1 p.Ala1215Val Uncertain significance Single submitter
- ABCC1 p.Ala1282Pro Uncertain significance Single submitter
- ABCC1 p.Ala1528Thr Uncertain significance Single submitter
- ABCC1 p.Ala160Val Uncertain significance Single submitter
- ABCC1 p.Ala672Val Uncertain significance Single submitter
- ABCC1 p.Arg1173His Uncertain significance Single submitter
-
ABCC1 p.Arg1202Gln
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss
- ABCC1 p.Arg1296Gln Conflicting Single submitter
- ABCC1 p.Arg1301Cys Likely benign Single submitter
- ABCC1 p.Arg194Cys Uncertain significance Single submitter
- ABCC1 p.Arg723Gly Uncertain significance Single submitter
- ABCC1 p.Arg758Gly Uncertain significance Single submitter
- ABCC1 p.Arg858Gly Uncertain significance Single submitter
- ABCC1 p.Arg867His Uncertain significance Single submitter
- ABCC1 p.Asn1318Ile Uncertain significance Single submitter
- ABCC1 p.Asn898Ser Uncertain significance Single submitter
- ABCC1 p.Asn993Ser Uncertain significance Single submitter
- ABCC1 p.Asp1051Val Uncertain significance Single submitter
- ABCC1 p.Asp1466Asn Uncertain significance Single submitter
- ABCC1 p.Asp1513Asn Uncertain significance Single submitter
- ABCC1 p.Asp17Tyr Uncertain significance Single submitter
- ABCC1 p.Asp17Val Uncertain significance Single submitter
- ABCC1 p.Asp204Gly Uncertain significance Single submitter
- ABCC1 p.Asp28Asn Uncertain significance Single submitter
- ABCC1 p.Asp628Gly Uncertain significance Single submitter
- ABCC1 p.Glu1304Gln Uncertain significance Single submitter
- ABCC1 p.Glu1350Asp Uncertain significance Single submitter
- ABCC1 p.Glu237Lys Uncertain significance Single submitter
- ABCC1 p.Gly99Ser Uncertain significance Single submitter
- ABCC1 p.His1011Arg Uncertain significance Single submitter
-
ABCC1 p.Ile1106Thr
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss
- ABCC1 p.Ile228Thr Uncertain significance Single submitter
- ABCC1 p.Ile452Met Uncertain significance Single submitter
- ABCC1 p.Ile576Phe Uncertain significance Single submitter
- ABCC1 p.Leu1098Met Uncertain significance Single submitter
- ABCC1 p.Leu1203Val Uncertain significance Single submitter
- ABCC1 p.Leu545Val Uncertain significance Single submitter
- ABCC1 p.Leu620Phe Uncertain significance Single submitter
- ABCC1 p.Leu977Phe Uncertain significance Single submitter
- ABCC1 p.Leu998Phe Uncertain significance Single submitter
- ABCC1 p.Met476Val Uncertain significance Single submitter
- ABCC1 p.Phe1368Leu Uncertain significance Single submitter
- ABCC1 p.Phe170Leu Uncertain significance Single submitter
- ABCC1 p.Phe179Ser Uncertain significance Single submitter
- ABCC1 p.Phe93Leu Uncertain significance Single submitter
- ABCC1 p.Pro1275Ser Uncertain significance Single submitter
- ABCC1 p.Ser1059Leu Uncertain significance Single submitter
- ABCC1 p.Ser1147Gly Uncertain significance Single submitter
- ABCC1 p.Ser1224Cys Uncertain significance Single submitter
- ABCC1 p.Ser1346Phe Uncertain significance Single submitter
- ABCC1 p.Ser1395Leu Uncertain significance Single submitter
- ABCC1 p.Ser465Cys Uncertain significance Single submitter
- ABCC1 p.Ser621Phe Uncertain significance Single submitter
- ABCC1 p.Ser917Pro Uncertain significance Single submitter
- ABCC1 p.Ser919Cys Uncertain significance Single submitter
- ABCC1 p.Thr1112Ala Uncertain significance Single submitter
- ABCC1 p.Thr1448Met Uncertain significance Single submitter
- ABCC1 p.Thr1480Ser Uncertain significance Single submitter
- ABCC1 p.Thr220Ser Uncertain significance Single submitter
- ABCC1 p.Thr439Met Uncertain significance Single submitter
- ABCC1 p.Trp222Ser Uncertain significance Single submitter
- ABCC1 p.Trp82Cys Uncertain significance Single submitter
- ABCC1 p.Tyr1133Phe Uncertain significance Single submitter
- ABCC1 p.Tyr53Cys Uncertain significance Single submitter
- ABCC1 p.Tyr831Cys Uncertain significance Single submitter
- ABCC1 p.Tyr869Cys Uncertain significance Single submitter
- ABCC1 p.Tyr963Phe Uncertain significance Single submitter
- ABCC1 p.Val1499Ile Uncertain significance Single submitter
- ABCC1 p.Val229Leu Uncertain significance Single submitter
- ABCC1 p.Val254Met Uncertain significance Single submitter
- ABCC1 p.Val676Met Uncertain significance Single submitter
- ABCC1 p.Val782Met Uncertain significance Single submitter
- ABCC1 p.Val84Phe Uncertain significance Single submitter
-
ABCC1 p.Ala1116Thr
Likely benign
No assertion criteria
ABCC1-related disorder
-
ABCC1 p.Arg62Gln
Benign
No assertion criteria
ABCC1-related disorder
-
ABCC1 p.Gly1007Arg
Benign
No assertion criteria
ABCC1-related disorder
-
ABCC1 p.Gly639Trp
Likely benign
No assertion criteria
ABCC1-related disorder
-
ABCC1 p.Ser92Phe
Benign
No assertion criteria
ABCC1-related disorder
-
ABCC1 p.Thr1401Met
Likely benign
No assertion criteria
ABCC1-related disorder
-
ABCC1 p.Val1481Ile
Benign
No assertion criteria
ABCC1-related disorder
All ABCC1 variants
Pathogenic 1
- p.Asn590Ser No assertion criteria hearing loss, autosomal dominant 77 ⚠
Conflicting classifications of pathogenicity 1
- p.Arg1296Gln Single submitter ⚠
Benign 17
- c.1381-5C>G Multiple submitters
- p.Ala1260= Multiple submitters
- p.Ala1406= Multiple submitters
- p.Arg433Ser Multiple submitters
- p.Gly885= Multiple submitters
- p.Ile1484= Multiple submitters
- p.Leu855= Multiple submitters
- p.Thr356= Multiple submitters
- p.Val1146Ile Multiple submitters ⚠
- c.3390+8G>A Single submitter
- p.Arg1263= Single submitter
- p.Asn1006= Single submitter
- p.Ser667= Single submitter
- p.Arg62Gln No assertion criteria ABCC1-related disorder ⚠
- p.Gly1007Arg No assertion criteria ABCC1-related disorder ⚠
- p.Ser92Phe No assertion criteria ABCC1-related disorder ⚠
- p.Val1481Ile No assertion criteria ABCC1-related disorder ⚠
Benign/Likely benign 2
- p.Gly762= Multiple submitters
- p.Leu1057= Multiple submitters
Likely benign 35
- p.Asp637= Multiple submitters
- c.1218+9C>T Single submitter
- c.1988+7C>T Single submitter
- c.2115+1_2115+6dup Single submitter
- c.3591-5C>T Single submitter
- p.Ala1459= Single submitter
- p.Ala293Val Single submitter
- p.Ala861= Single submitter
- p.Arg1292= Single submitter
- p.Arg1301Cys Single submitter ⚠
- p.Arg775= Single submitter
- p.Gln742Glu Single submitter
- p.Gly1103Asp Single submitter
- p.Gly640Asp Single submitter
- p.Gly888Ser Single submitter
- p.His335= Single submitter
- p.Ile1039= Single submitter
- p.Ile184Val Single submitter
- p.Ile228Met Single submitter
- p.Leu866= Single submitter
- p.Lys270= Single submitter
- p.Phe666= Single submitter
- p.Ser707= Single submitter
- p.Thr1112= Single submitter
- p.Thr1242= Single submitter
- p.Thr826= Single submitter
- p.Val1107Ile Single submitter
- p.Val1432= Single submitter
- p.Val635= Single submitter
- p.Ala1116Thr No assertion criteria ABCC1-related disorder ⚠
- p.Arg633Gln No assertion criteria ABCC1-related disorder
- p.Asn412Ser No assertion criteria ABCC1-related disorder
- p.Gly639Trp No assertion criteria ABCC1-related disorder ⚠
- p.Pro285Leu No assertion criteria ABCC1-related disorder
- p.Thr1401Met No assertion criteria ABCC1-related disorder ⚠
Uncertain significance 150
- p.Thr1464Met Multiple submitters ⚠
- p.Ala1029Thr Single submitter ⚠
- p.Ala1115Val Single submitter ⚠
- p.Ala1215Val Single submitter ⚠
- p.Ala1260Asp Single submitter ⚠
- p.Ala1282Pro Single submitter ⚠
- p.Ala1528Thr Single submitter ⚠
- p.Ala1528Val Single submitter ⚠
- p.Ala160Val Single submitter ⚠
- p.Ala213Ser Single submitter ⚠
- p.Ala654Val Single submitter ⚠
- p.Ala672Val Single submitter ⚠
- p.Arg1173His Single submitter ⚠
- p.Arg1202Gln Single submitter autosomal dominant nonsyndromic hearing loss ⚠
- p.Arg1249Leu Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg593Trp Single submitter ⚠
- p.Arg647Ser Single submitter ⚠
- p.Arg723Gly Single submitter ⚠
- p.Arg758Gly Single submitter ⚠
- p.Arg858Gln Single submitter ⚠
- p.Arg858Gly Single submitter ⚠
- p.Arg867His Single submitter ⚠
- p.Asn1156Ser Single submitter ⚠
- p.Asn1318Ile Single submitter ⚠
- p.Asn310Lys Single submitter ⚠
- p.Asn510Ser Single submitter ⚠
- p.Asn898Ser Single submitter ⚠
- p.Asn993Ser Single submitter ⚠
- p.Asp1051Val Single submitter ⚠
- p.Asp1081His Single submitter ⚠
- p.Asp1420Glu Single submitter ⚠
- p.Asp1466Asn Single submitter ⚠
- p.Asp1513Asn Single submitter ⚠
- p.Asp17Tyr Single submitter ⚠
- p.Asp17Val Single submitter ⚠
- p.Asp193His Single submitter ⚠
- p.Asp204Gly Single submitter ⚠
- p.Asp28Asn Single submitter ⚠
- p.Asp628Gly Single submitter ⚠
- p.Asp88His Single submitter ⚠
- p.Cys148Trp Single submitter ⚠
- p.Gln1186Arg Single submitter ⚠
- p.Glu1079Asp Single submitter ⚠
- p.Glu1184Asp Single submitter ⚠
- p.Glu1304Gln Single submitter ⚠
- p.Glu1321Gly Single submitter ⚠
- p.Glu1350Asp Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Glu670Lys Single submitter ⚠
- p.Glu763Lys Single submitter ⚠
- p.Glu892Ala Single submitter ⚠
- p.Gly1324Ser Single submitter ⚠
- p.Gly639Arg Single submitter ⚠
- p.Gly683Arg Single submitter ⚠
- p.Gly99Ser Single submitter ⚠
- p.His1011Arg Single submitter ⚠
- p.Ile100Thr Single submitter ⚠
- p.Ile1106Thr Single submitter autosomal dominant nonsyndromic hearing loss ⚠
- p.Ile1106Val Single submitter ⚠
- p.Ile228Thr Single submitter ⚠
- p.Ile228Val Single submitter ⚠
- p.Ile301Leu Single submitter ⚠
- p.Ile452Met Single submitter ⚠
- p.Ile576Phe Single submitter ⚠
- p.Ile704Val Single submitter ⚠
- p.Ile838Thr Single submitter ⚠
- p.Ile839Ser Single submitter ⚠
- p.Ile83Val Single submitter ⚠
- p.Ile979Val Single submitter ⚠
- p.Leu1098Met Single submitter ⚠
- p.Leu119Pro Single submitter ⚠
- p.Leu1203Val Single submitter ⚠
- p.Leu1462Val Single submitter ⚠
- p.Leu186Arg Single submitter ⚠
- p.Leu545Val Single submitter ⚠
- p.Leu57Pro Single submitter ⚠
- p.Leu613Pro Single submitter ⚠
- p.Leu620Phe Single submitter ⚠
- p.Leu977Phe Single submitter ⚠
- p.Leu981Pro Single submitter ⚠
- p.Leu998Phe Single submitter ⚠
- p.Lys31Met Single submitter ⚠
- p.Lys941Glu Single submitter ⚠
- p.Met1095Val Single submitter ⚠
- p.Met138Val Single submitter ⚠
- p.Met427Thr Single submitter ⚠
- p.Met476Val Single submitter ⚠
- p.Met900Thr Single submitter ⚠
- p.Met948Ile Single submitter ⚠
- p.Phe1295Leu Single submitter ⚠
- p.Phe1368Leu Single submitter ⚠
- p.Phe170Leu Single submitter ⚠
- p.Phe179Ser Single submitter ⚠
- p.Phe93Leu Single submitter ⚠
- p.Phe93Tyr Single submitter ⚠
- p.Pro1275Ser Single submitter ⚠
- p.Pro1390Ser Single submitter ⚠
- p.Pro285Thr Single submitter ⚠
- p.Pro627Ala Single submitter ⚠
- p.Pro889Leu Single submitter ⚠
- p.Ser1034Thr Single submitter ⚠
- p.Ser1045Phe Single submitter ⚠
- p.Ser1059Leu Single submitter ⚠
- p.Ser1147Gly Single submitter ⚠
- p.Ser1224Cys Single submitter ⚠
- p.Ser1346Phe Single submitter ⚠
- p.Ser1395Leu Single submitter ⚠
- p.Ser465Cys Single submitter ⚠
- p.Ser621Phe Single submitter ⚠
- p.Ser917Pro Single submitter ⚠
- p.Ser919Cys Single submitter ⚠
- p.Ser919del Single submitter
- p.Thr1112Ala Single submitter ⚠
- p.Thr1448Met Single submitter ⚠
- p.Thr1457Met Single submitter ⚠
- p.Thr1480Ser Single submitter ⚠
- p.Thr174Ser Single submitter ⚠
- p.Thr220Ser Single submitter ⚠
- p.Thr439Met Single submitter ⚠
- p.Thr641Met Single submitter ⚠
- p.Trp1276Arg Single submitter ⚠
- p.Trp222Ser Single submitter ⚠
- p.Trp82Cys Single submitter ⚠
- p.Tyr1019Cys Single submitter ⚠
- p.Tyr1126Ser Single submitter ⚠
- p.Tyr1133Phe Single submitter ⚠
- p.Tyr1267Cys Single submitter ⚠
- p.Tyr53Cys Single submitter ⚠
- p.Tyr789Asn Single submitter ⚠
- p.Tyr831Cys Single submitter ⚠
- p.Tyr869Cys Single submitter ⚠
- p.Tyr963Phe Single submitter ⚠
- p.Val1499Ile Single submitter ⚠
- p.Val229Leu Single submitter ⚠
- p.Val254Met Single submitter ⚠
- p.Val256Ile Single submitter ⚠
- p.Val676Met Single submitter ⚠
- p.Val782Met Single submitter ⚠
- p.Val84Ile Single submitter ⚠
- p.Val84Phe Single submitter ⚠
- c.1913-609G>A No assertion criteria hereditary breast carcinoma
- c.1913-617C>T No assertion criteria hereditary breast carcinoma
- c.1913-718G>T No assertion criteria hereditary breast carcinoma
- c.1988+219G>T No assertion criteria hereditary breast carcinoma
- c.1988+310C>T No assertion criteria hereditary breast carcinoma
- c.1988+357G>T No assertion criteria hereditary breast carcinoma
- c.2292+288G>A No assertion criteria hereditary breast carcinoma
- c.2461-1175C>G No assertion criteria hereditary breast carcinoma
- p.Arg723Gln No assertion criteria hereditary breast carcinoma ⚠