ESR1 — 127 ClinVar variants
All ClinVar germline ESR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
3 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Conflicting · 40 Benign · 3 Benign/Likely benign · 43 Likely benign · 34 Uncertain significance
Full ESR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ESR1 p.Lys299Arg Uncertain significance Multiple submitters
- ESR1 p.Ala88Val Uncertain significance Single submitter
- ESR1 p.Arg183Gly Uncertain significance Single submitter
- ESR1 p.Asn156Thr Uncertain significance Single submitter
- ESR1 p.Asn69His Uncertain significance Single submitter
- ESR1 p.Asp545Gly Uncertain significance Single submitter
- ESR1 p.Glu143Asp Uncertain significance Single submitter
-
ESR1 p.Gly145Ser
Uncertain significance
Single submitter
hereditary breast carcinoma
- ESR1 p.His267Gln Uncertain significance Single submitter
- ESR1 p.Ile326Val Uncertain significance Single submitter
- ESR1 p.Leu44Pro Uncertain significance Single submitter
-
ESR1 p.Lys268Asn
Uncertain significance
Single submitter
hereditary breast carcinoma
- ESR1 p.Lys472Thr Uncertain significance Single submitter
- ESR1 p.Phe97Ser Uncertain significance Single submitter
- ESR1 p.Pro98Ser Uncertain significance Single submitter
- ESR1 p.Pro99Gln Uncertain significance Single submitter
- ESR1 p.Pro99Leu Uncertain significance Single submitter
- ESR1 p.Thr460Ala Uncertain significance Single submitter
- ESR1 p.Thr570Ser Uncertain significance Single submitter
- ESR1 p.Thr76Ser Uncertain significance Single submitter
- ESR1 p.Tyr150Asn Uncertain significance Single submitter
- ESR1 p.Tyr191Cys Uncertain significance Single submitter
- ESR1 p.Val458Leu Uncertain significance Single submitter
-
ESR1 p.Val364Glu
Uncertain significance
No assertion criteria
estrogen resistance syndrome
Predictors split 10
The independent predictors disagree with each other — read with care.
- ESR1 p.Arg269Cys Likely benign Multiple submitters
- ESR1 p.Arg436His Uncertain significance Single submitter
- ESR1 p.Gln498Lys Uncertain significance Single submitter
- ESR1 p.Gly160Cys Conflicting Single submitter
- ESR1 p.Gly90Asp Uncertain significance Single submitter
- ESR1 p.Pro99Arg Uncertain significance Single submitter
- ESR1 p.Ser10Phe Uncertain significance Single submitter
- ESR1 p.Ser578Phe Uncertain significance Single submitter
- ESR1 p.Val199Ile Uncertain significance Single submitter
- ESR1 p.Val446Ala Uncertain significance Single submitter
All ESR1 variants
Pathogenic 3
- p.Arg157Ter No assertion criteria estrogen resistance syndrome
- p.Cys447Ala No assertion criteria Estrogen receptor mutant, temperature-sensitive
- p.Gln375His No assertion criteria estrogen resistance syndrome
Pathogenic/Likely pathogenic 1
- p.Arg394His No assertion criteria estrogen resistance syndrome
Conflicting classifications of pathogenicity 3
- p.Gly160Cys Single submitter ⚠
- p.His6Tyr Single submitter ⚠
- p.Pro152Ala Single submitter ⚠
Benign 40
- p.Ala558= Multiple submitters
- p.Ser10= Multiple submitters hereditary breast carcinoma
- c.1096+16G>A Single submitter
- c.1097-131del Single submitter
- c.1097-273A>G Single submitter
- c.1235+175G>A Single submitter
- c.1235+224AC[16] Single submitter
- c.1235+224AC[17] Single submitter
- c.1235+224AC[18] Single submitter
- c.1235+224AC[19] Single submitter
- c.1235+224AC[20] Single submitter
- c.1235+259CT[11] Single submitter
- c.1235+259CT[9] Single submitter
- c.1235+55T>C Single submitter
- c.1236-112A>G Single submitter
- c.1236-128T>C Single submitter
- c.1369+123G>A Single submitter
- c.1369+161A>G Single submitter
- c.1369+52G>T Single submitter
- c.1369+66A>G Single submitter
- c.1554-341G>A Single submitter
- c.452+247G>T Single submitter
- c.452+47GGAG[7] Single submitter
- c.452+89C>T Single submitter
- c.644-326T>C Single submitter
- c.760+101T>C Single submitter
- c.761-17dup Single submitter
- c.-70-3748_-70-3747insAA Single submitter
- c.-73A>G Single submitter
- c.-84C>G Single submitter
- p.Ala58= Single submitter
- p.Ala87= Single submitter
- p.Arg243= Single submitter
- p.Gly77Ser Single submitter
- p.His377= Single submitter
- p.Leu379= Single submitter
- p.Pro146Gln Single submitter
- p.Pro325= Single submitter
- p.Ser137Gly Single submitter
- c.453-9del No assertion criteria ESR1-related disorder
Benign/Likely benign 3
- p.Ser118Pro Multiple submitters
- p.Thr311= Multiple submitters
- p.Thr594= Multiple submitters hereditary breast carcinoma
Likely benign 43
- c.1096+15C>T Multiple submitters
- c.1235+103A>G Multiple submitters
- c.1554-148C>T Multiple submitters
- c.1554-261T>C Multiple submitters
- c.643+104A>G Multiple submitters
- c.644-166G>A Multiple submitters
- c.761-163T>C Multiple submitters
- c.761-210G>C Multiple submitters
- c.*296A>G Multiple submitters
- p.Ala569Thr Multiple submitters
- p.Arg269Cys Multiple submitters ⚠
- p.Pro105= Multiple submitters
- p.Thr585= Multiple submitters
- c.1097-95A>G Single submitter
- c.1235+224AC[22] Single submitter
- c.1235+255CA[3] Single submitter
- c.1369+135C>G Single submitter
- c.1369+215A>G Single submitter
- c.452+270C>G Single submitter
- c.453-200G>T Single submitter
- c.643+63C>T Single submitter
- c.644-301del Single submitter
- c.760+184G>A Single submitter
- c.760+85G>A Single submitter
- c.-170C>T Single submitter
- p.Ala312= Single submitter
- p.Ala340= Single submitter
- p.Ala546= Single submitter
- p.Ala571= Single submitter
- p.Asn290= Single submitter
- p.Asn92= Single submitter
- p.Cys240= Single submitter
- p.Gln499= Single submitter
- p.Gly344= Single submitter
- p.Leu39= Single submitter
- p.Leu536= Single submitter
- p.Met109Val Single submitter
- p.Pro136Ser Single submitter
- p.Pro152= Single submitter
- p.Pro295= Single submitter
- p.Ser576= Single submitter
- p.His6= No assertion criteria ESR1-related disorder
- p.Lys292Asn No assertion criteria ESR1-related disorder
Uncertain significance 34
- p.Lys299Arg Multiple submitters ⚠
- c.453-351A>G Single submitter scoliosis, isolated, susceptibility to, 1
- p.Ala88Val Single submitter ⚠
- p.Arg183Gly Single submitter ⚠
- p.Arg436His Single submitter ⚠
- p.Asn156Thr Single submitter ⚠
- p.Asn69His Single submitter ⚠
- p.Asp545Gly Single submitter ⚠
- p.Gln498Lys Single submitter ⚠
- p.Glu143Asp Single submitter ⚠
- p.Gly145Ser Single submitter hereditary breast carcinoma ⚠
- p.Gly90Asp Single submitter ⚠
- p.His267Gln Single submitter ⚠
- p.Ile326Val Single submitter ⚠
- p.Leu44Pro Single submitter ⚠
- p.Lys268Asn Single submitter hereditary breast carcinoma ⚠
- p.Lys472Thr Single submitter ⚠
- p.Phe97Ser Single submitter ⚠
- p.Pro365= Single submitter
- p.Pro98Ser Single submitter ⚠
- p.Pro99Arg Single submitter ⚠
- p.Pro99Gln Single submitter ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser10Phe Single submitter ⚠
- p.Ser578Phe Single submitter ⚠
- p.Thr460Ala Single submitter ⚠
- p.Thr570Ser Single submitter ⚠
- p.Thr76Ser Single submitter ⚠
- p.Tyr150Asn Single submitter ⚠
- p.Tyr191Cys Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val446Ala Single submitter ⚠
- p.Val458Leu Single submitter ⚠
- p.Val364Glu No assertion criteria estrogen resistance syndrome ⚠