CHEK1 — 103 ClinVar variants
All ClinVar germline CHEK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 10 Benign · 38 Likely benign · 50 Uncertain significance
Full CHEK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CHEK1 p.Arg277Gln
Uncertain significance
Multiple submitters
CHEK1-related disorder
- CHEK1 p.Arg156Trp Uncertain significance Single submitter
- CHEK1 p.Arg29Gly Uncertain significance Single submitter
- CHEK1 p.Arg322His Uncertain significance Single submitter
-
CHEK1 p.Arg372Trp
Uncertain significance
Single submitter
CHEK1-related disorder
- CHEK1 p.Asn356His Uncertain significance Single submitter
- CHEK1 p.Asp139Tyr Uncertain significance Single submitter
- CHEK1 p.Cys194Arg Uncertain significance Single submitter
- CHEK1 p.Cys57Gly Uncertain significance Single submitter
- CHEK1 p.Gln371Pro Uncertain significance Single submitter
- CHEK1 p.Glu55Lys Uncertain significance Single submitter
- CHEK1 p.Gly101Cys Uncertain significance Single submitter
- CHEK1 p.Gly282Arg Uncertain significance Single submitter
- CHEK1 p.Gly77Val Uncertain significance Single submitter
- CHEK1 p.Ile463Met Uncertain significance Single submitter
- CHEK1 p.Leu144Arg Uncertain significance Single submitter
- CHEK1 p.Leu269His Uncertain significance Single submitter
- CHEK1 p.Lys445Glu Uncertain significance Single submitter
- CHEK1 p.Met167Leu Uncertain significance Single submitter
- CHEK1 p.Met201Thr Uncertain significance Single submitter
- CHEK1 p.Met201Val Uncertain significance Single submitter
- CHEK1 p.Met409Val Uncertain significance Single submitter
- CHEK1 p.Pro105Ser Uncertain significance Single submitter
-
CHEK1 p.Pro188Arg
Uncertain significance
Single submitter
oocyte/zygote/embryo maturation arrest 21
- CHEK1 p.Pro287Leu Uncertain significance Single submitter
- CHEK1 p.Pro302Leu Uncertain significance Single submitter
- CHEK1 p.Ser288Asn Uncertain significance Single submitter
- CHEK1 p.Ser316Gly Uncertain significance Single submitter
- CHEK1 p.Val67Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
-
CHEK1 p.Ala200Ser
Uncertain significance
Single submitter
oocyte/zygote/embryo maturation arrest 21
- CHEK1 p.Ala34Pro Uncertain significance Single submitter
-
CHEK1 p.Arg156Gln
Uncertain significance
Single submitter
CHEK1-related disorder
-
CHEK1 p.Arg160Cys
Uncertain significance
Single submitter
hereditary neoplastic syndrome
- CHEK1 p.Asn159Ile Uncertain significance Single submitter
- CHEK1 p.Gln371His Uncertain significance Single submitter
- CHEK1 p.Gly341Arg Uncertain significance Single submitter
-
CHEK1 p.Ile196Leu
Uncertain significance
Single submitter
CHEK1-related disorder
- CHEK1 p.Lys166Asn Uncertain significance Single submitter
- CHEK1 p.Val174Ala Uncertain significance Single submitter
-
CHEK1 p.Arg420Lys
Pathogenic
No assertion criteria
oocyte/zygote/embryo maturation arrest 21
All CHEK1 variants
Pathogenic 4
- p.Arg379Gln No assertion criteria oocyte/zygote/embryo maturation arrest 21
- p.Arg420Lys No assertion criteria oocyte/zygote/embryo maturation arrest 21 ⚠
- p.Arg442fs No assertion criteria oocyte/zygote/embryo maturation arrest 21
- p.Arg442Gln No assertion criteria oocyte/zygote/embryo maturation arrest 21
Likely pathogenic 1
- p.Gln346Ter Multiple submitters Male infertility due to gonadal dysgenesis or sperm disorder
Benign 10
- p.Arg420= Multiple submitters
- p.Ile471Val Multiple submitters
- c.1102-9G>A Single submitter
- c.66-160A>G Single submitter
- c.-191T>C Single submitter
- c.-253A>T Single submitter
- c.-182C>G No assertion criteria CHEK1-related disorder
- c.-188A>G No assertion criteria CHEK1-related disorder
- c.-196A>G No assertion criteria CHEK1-related disorder
- c.-209G>A No assertion criteria CHEK1-related disorder
Likely benign 38
- p.Ala175= Single submitter
- p.Asn421= Single submitter
- p.Asn422= Single submitter
- p.Asp329= Single submitter
- p.Cys215= Single submitter
- p.Gln469= Single submitter
- p.His128= Single submitter
- p.Ile254= Single submitter
- p.Ile414Val Single submitter
- p.Leu137= Single submitter
- p.Leu15= Single submitter
- p.Leu241= Single submitter
- p.Leu373= Single submitter
- p.Leu393= Single submitter
- p.Leu400= Single submitter
- p.Lys261= Single submitter
- p.Phe300= Single submitter
- p.Pro172= Single submitter
- p.Pro230= Single submitter
- p.Ser212= Single submitter
- p.Ser317= Single submitter
- p.Thr153= Single submitter
- p.Thr31= Single submitter
- p.Tyr334= Single submitter
- p.Val339= Single submitter
- p.Val35= Single submitter
- c.1234-26G>A No assertion criteria hereditary neoplastic syndrome
- c.1336-481T>C No assertion criteria hereditary neoplastic syndrome
- c.289+83T>G No assertion criteria hereditary neoplastic syndrome
- c.290-173C>T No assertion criteria hereditary neoplastic syndrome
- c.614-8G>A No assertion criteria CHEK1-related disorder
- c.814+7del No assertion criteria CHEK1-related disorder
- c.-114G>T No assertion criteria CHEK1-related disorder
- c.-170C>T No assertion criteria CHEK1-related disorder
- c.-195C>T No assertion criteria CHEK1-related disorder
- c.-37G>A No assertion criteria CHEK1-related disorder
- c.*10C>T No assertion criteria CHEK1-related disorder
- p.Thr226fs No assertion criteria CHEK1-related disorder
Uncertain significance 50
- p.Arg277Gln Multiple submitters CHEK1-related disorder ⚠
- c.-160C>T Single submitter CHEK1-related disorder
- c.-83T>C Single submitter CHEK1-related disorder
- p.Ala200Ser Single submitter oocyte/zygote/embryo maturation arrest 21 ⚠
- p.Ala34Pro Single submitter ⚠
- p.Arg156Gln Single submitter CHEK1-related disorder ⚠
- p.Arg156Trp Single submitter ⚠
- p.Arg160Cys Single submitter hereditary neoplastic syndrome ⚠
- p.Arg29Gly Single submitter ⚠
- p.Arg322His Single submitter ⚠
- p.Arg372Trp Single submitter CHEK1-related disorder ⚠
- p.Arg379Ter Single submitter hereditary neoplastic syndrome
- p.Asn159Ile Single submitter ⚠
- p.Asn356His Single submitter ⚠
- p.Asp139Tyr Single submitter ⚠
- p.Cys194Arg Single submitter ⚠
- p.Cys57Gly Single submitter ⚠
- p.Gln358Glu Single submitter
- p.Gln371His Single submitter ⚠
- p.Gln371Pro Single submitter ⚠
- p.Glu55Lys Single submitter ⚠
- p.Gly101Cys Single submitter ⚠
- p.Gly282Arg Single submitter ⚠
- p.Gly341Arg Single submitter ⚠
- p.Gly77Val Single submitter ⚠
- p.Ile196Leu Single submitter CHEK1-related disorder ⚠
- p.Ile463Met Single submitter ⚠
- p.Leu144Arg Single submitter ⚠
- p.Leu269His Single submitter ⚠
- p.Lys166Asn Single submitter ⚠
- p.Lys445Glu Single submitter ⚠
- p.Met167Leu Single submitter ⚠
- p.Met201Thr Single submitter ⚠
- p.Met201Val Single submitter ⚠
- p.Met409Val Single submitter ⚠
- p.Pro105Ser Single submitter ⚠
- p.Pro188Arg Single submitter oocyte/zygote/embryo maturation arrest 21 ⚠
- p.Pro287Leu Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Ser288Asn Single submitter ⚠
- p.Ser316Gly Single submitter ⚠
- p.Tyr71Cys Single submitter
- p.Val174Ala Single submitter ⚠
- p.Val67Ile Single submitter ⚠
- c.613_613+1delinsTT No assertion criteria CHEK1-related disorder
- c.-155G>C No assertion criteria CHEK1-related disorder
- c.-266T>A No assertion criteria CHEK1-related disorder
- c.-89A>T No assertion criteria CHEK1-related disorder
- c.-92G>C No assertion criteria CHEK1-related disorder
- p.Gln13= No assertion criteria CHEK1-related disorder