MSR1 — 133 ClinVar variants
All ClinVar germline MSR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
2 Pathogenic · 7 Likely pathogenic · 2 Conflicting · 14 Benign · 32 Likely benign · 76 Uncertain significance
Full MSR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 77
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MSR1 p.Lys241Arg
Likely pathogenic
Single submitter
ovarian cancer
-
MSR1 p.Pro302Gln
Likely pathogenic
Single submitter
ovarian cancer
-
MSR1 p.Leu254Val
Pathogenic
No assertion criteria
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MSR1 p.Arg26Cys
Conflicting
Single submitter
ovarian cancer
Predictors lean, ClinVar uncertain 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MSR1 p.Asp174Tyr
Uncertain significance
Multiple submitters
prostate cancer
- MSR1 p.Ala228Thr Uncertain significance Single submitter
- MSR1 p.Ala402Val Uncertain significance Single submitter
- MSR1 p.Ala438Pro Uncertain significance Single submitter
- MSR1 p.Ala445Gly Uncertain significance Single submitter
-
MSR1 p.Ala73Thr
Uncertain significance
Single submitter
Barrett esophagus
- MSR1 p.Arg218His Uncertain significance Single submitter
- MSR1 p.Arg308Gln Uncertain significance Single submitter
- MSR1 p.Arg382His Uncertain significance Single submitter
- MSR1 p.Arg432Gln Uncertain significance Single submitter
- MSR1 p.Arg432Trp Uncertain significance Single submitter
- MSR1 p.Asn193Ile Uncertain significance Single submitter
- MSR1 p.Asn221Asp Uncertain significance Single submitter
- MSR1 p.Asp103Glu Uncertain significance Single submitter
- MSR1 p.Cys375Tyr Uncertain significance Single submitter
- MSR1 p.Gln126Arg Uncertain significance Single submitter
- MSR1 p.Gln150Lys Uncertain significance Single submitter
- MSR1 p.Gln208Arg Uncertain significance Single submitter
- MSR1 p.Gln233Lys Uncertain significance Single submitter
- MSR1 p.Gln263Glu Uncertain significance Single submitter
- MSR1 p.Gln407Glu Uncertain significance Single submitter
- MSR1 p.Gln95His Uncertain significance Single submitter
- MSR1 p.Glu107Ala Uncertain significance Single submitter
- MSR1 p.Glu231Lys Uncertain significance Single submitter
- MSR1 p.Glu44Asp Uncertain significance Single submitter
- MSR1 p.Gly242Val Uncertain significance Single submitter
- MSR1 p.Gly285Val Uncertain significance Single submitter
- MSR1 p.Gly294Arg Uncertain significance Single submitter
- MSR1 p.Gly297Arg Uncertain significance Single submitter
- MSR1 p.Gly297Ser Uncertain significance Single submitter
- MSR1 p.Gly306Arg Uncertain significance Single submitter
- MSR1 p.Gly309Glu Uncertain significance Single submitter
- MSR1 p.Gly315Glu Uncertain significance Single submitter
- MSR1 p.Gly324Glu Uncertain significance Single submitter
- MSR1 p.Gly361Ala Uncertain significance Single submitter
- MSR1 p.Gly410Val Uncertain significance Single submitter
- MSR1 p.Gly69Glu Uncertain significance Single submitter
- MSR1 p.Ile194Thr Uncertain significance Single submitter
- MSR1 p.Ile93Leu Uncertain significance Single submitter
- MSR1 p.Leu265Ser Uncertain significance Single submitter
- MSR1 p.Leu344Ser Uncertain significance Single submitter
- MSR1 p.Leu391Phe Uncertain significance Single submitter
- MSR1 p.Leu56Phe Uncertain significance Single submitter
- MSR1 p.Leu64Val Uncertain significance Single submitter
- MSR1 p.Leu67His Uncertain significance Single submitter
- MSR1 p.Lys123Arg Uncertain significance Single submitter
- MSR1 p.Lys241Thr Uncertain significance Single submitter
- MSR1 p.Met131Val Uncertain significance Single submitter
- MSR1 p.Phe144Ile Uncertain significance Single submitter
- MSR1 p.Pro286Leu Uncertain significance Single submitter
- MSR1 p.Pro66Arg Uncertain significance Single submitter
- MSR1 p.Ser213Asn Uncertain significance Single submitter
- MSR1 p.Ser213Thr Uncertain significance Single submitter
- MSR1 p.Ser356Asn Uncertain significance Single submitter
- MSR1 p.Ser356Gly Uncertain significance Single submitter
- MSR1 p.Thr185Ile Uncertain significance Single submitter
- MSR1 p.Thr205Ile Uncertain significance Single submitter
- MSR1 p.Thr287Pro Uncertain significance Single submitter
- MSR1 p.Thr343Ile Uncertain significance Single submitter
- MSR1 p.Thr409Ser Uncertain significance Single submitter
- MSR1 p.Thr88Ser Uncertain significance Single submitter
- MSR1 p.Val234Met Uncertain significance Single submitter
- MSR1 p.Val386Ile Uncertain significance Single submitter
- MSR1 p.Asp307Tyr Uncertain significance No assertion criteria
Predictors split 9
The independent predictors disagree with each other — read with care.
- MSR1 p.Asp253Ala Uncertain significance Single submitter
- MSR1 p.Asp253Tyr Uncertain significance Single submitter
- MSR1 p.Asp253Val Uncertain significance Single submitter
- MSR1 p.Gly384Val Uncertain significance Single submitter
- MSR1 p.Lys305Glu Uncertain significance Single submitter
- MSR1 p.Met121Ile Uncertain significance Single submitter
-
MSR1 p.Phe23Cys
Likely pathogenic
Single submitter
ovarian cancer
- MSR1 p.Thr251Ile Uncertain significance Single submitter
- MSR1 p.Trp434Ser Uncertain significance Single submitter
All MSR1 variants
Pathogenic 2
- c.1033+1G>C Single submitter
- p.Leu254Val No assertion criteria BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA ⚠
Likely pathogenic 7
- c.688_1356del Single submitter carcinoma of esophagus
- c.818-1G>A Single submitter
- p.Gln11Ter Single submitter carcinoma of esophagus
- p.Gly408Ala Single submitter ovarian cancer
- p.Lys241Arg Single submitter ovarian cancer ⚠
- p.Phe23Cys Single submitter ovarian cancer ⚠
- p.Pro302Gln Single submitter ovarian cancer ⚠
Conflicting classifications of pathogenicity 2
- p.Arg26Cys Single submitter ovarian cancer ⚠
- p.Arg293Ter Single submitter Barrett esophagus
Benign 14
- c.1033+10T>C Multiple submitters
- c.630+3A>G Multiple submitters
- p.Asp376= Multiple submitters
- p.Pro346= Multiple submitters
- c.1034-11del Single submitter
- p.Ala398= Single submitter
- p.Ile181Lys Single submitter
- p.Leu197= Single submitter
- p.Lys338= Single submitter
- p.Pro278Leu Single submitter ovarian cancer
- p.Thr161Asn Single submitter ovarian cancer
- p.Trp4Arg Single submitter ovarian cancer
- c.1034-17_1034-10del No assertion criteria MSR1-related disorder
- p.Arg362= No assertion criteria MSR1-related disorder
Likely benign 32
- c.103+1G>T Multiple submitters
- c.1034-8C>A Multiple submitters
- c.1034-10A>T Single submitter
- c.1034-11dup Single submitter
- c.1034-12_1034-11dup Single submitter
- c.1034-13_1034-11del Single submitter
- c.1034-13_1034-11dup Single submitter
- c.1034-14_1034-11del Single submitter
- c.1034-14_1034-11dup Single submitter
- c.1034-15_1034-10del Single submitter
- c.1034-15_1034-11del Single submitter
- c.1034-15_1034-11dup Single submitter
- c.1034-16_1034-10del Single submitter
- c.1034-16_1034-11del Single submitter
- c.1034-18_1034-11del Single submitter
- c.1034-19_1034-10del Single submitter
- c.104-10G>A Single submitter
- c.104-18G>C Single submitter
- c.980-6dup Single submitter
- p.Ala323= Single submitter
- p.Asn82= Single submitter
- p.Asn91= Single submitter
- p.Glu19= Single submitter
- p.His8Arg Single submitter
- p.Ser119= Single submitter
- p.Thr80Met Single submitter
- p.Thr98Met Single submitter
- c.630+7G>A No assertion criteria MSR1-related disorder
- c.-5+6386C>A No assertion criteria MSR1-related disorder
- p.Ile181Val No assertion criteria MSR1-related disorder
- p.Met118Ile No assertion criteria MSR1-related disorder
- p.Val244= No assertion criteria MSR1-related disorder
Uncertain significance 76
- p.Asp174Tyr Multiple submitters prostate cancer ⚠
- c.980-1G>T Single submitter Barrett esophagus
- c.-4-1G>A Single submitter carcinoma of esophagus
- p.Ala228Thr Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala438Pro Single submitter ⚠
- p.Ala445Gly Single submitter ⚠
- p.Ala73Thr Single submitter Barrett esophagus ⚠
- p.Arg218His Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg382His Single submitter ⚠
- p.Arg432Gln Single submitter ⚠
- p.Arg432Trp Single submitter ⚠
- p.Asn193Ile Single submitter ⚠
- p.Asn221Asp Single submitter ⚠
- p.Asp103Glu Single submitter ⚠
- p.Asp253Ala Single submitter ⚠
- p.Asp253Tyr Single submitter ⚠
- p.Asp253Val Single submitter ⚠
- p.Cys375Tyr Single submitter ⚠
- p.Gln111Pro Single submitter
- p.Gln126Arg Single submitter ⚠
- p.Gln150Lys Single submitter ⚠
- p.Gln208Arg Single submitter ⚠
- p.Gln233Lys Single submitter ⚠
- p.Gln263Glu Single submitter ⚠
- p.Gln407Glu Single submitter ⚠
- p.Gln95His Single submitter ⚠
- p.Glu107Ala Single submitter ⚠
- p.Glu231Lys Single submitter ⚠
- p.Glu44Asp Single submitter ⚠
- p.Gly242Val Single submitter ⚠
- p.Gly285Val Single submitter ⚠
- p.Gly294Arg Single submitter ⚠
- p.Gly297Arg Single submitter ⚠
- p.Gly297Ser Single submitter ⚠
- p.Gly306Arg Single submitter ⚠
- p.Gly309Glu Single submitter ⚠
- p.Gly315Glu Single submitter ⚠
- p.Gly324Glu Single submitter ⚠
- p.Gly361Ala Single submitter ⚠
- p.Gly384Val Single submitter ⚠
- p.Gly410Val Single submitter ⚠
- p.Gly69Glu Single submitter ⚠
- p.Ile194Thr Single submitter ⚠
- p.Ile93Leu Single submitter ⚠
- p.Leu265Ser Single submitter ⚠
- p.Leu344Ser Single submitter ⚠
- p.Leu391Phe Single submitter ⚠
- p.Leu56Phe Single submitter ⚠
- p.Leu64Val Single submitter ⚠
- p.Leu67His Single submitter ⚠
- p.Lys123Arg Single submitter ⚠
- p.Lys241Thr Single submitter ⚠
- p.Lys305Glu Single submitter ⚠
- p.Met121Ile Single submitter ⚠
- p.Met131Val Single submitter ⚠
- p.Phe144Ile Single submitter ⚠
- p.Pro286Leu Single submitter ⚠
- p.Pro66Arg Single submitter ⚠
- p.Ser213Asn Single submitter ⚠
- p.Ser213Thr Single submitter ⚠
- p.Ser356Asn Single submitter ⚠
- p.Ser356Gly Single submitter ⚠
- p.Thr185Ile Single submitter ⚠
- p.Thr205Ile Single submitter ⚠
- p.Thr251Ile Single submitter ⚠
- p.Thr287Pro Single submitter ⚠
- p.Thr343Ile Single submitter ⚠
- p.Thr409Ile Single submitter
- p.Thr409Ser Single submitter ⚠
- p.Thr88Ser Single submitter ⚠
- p.Trp434Ser Single submitter ⚠
- p.Val234Met Single submitter ⚠
- p.Val386Ile Single submitter ⚠
- p.Asp307Tyr No assertion criteria ⚠