Full data view for gene CHEK2

Information The variants shown are described using the NM_007194.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.1427C>T r.(?) p.(Thr476Met) Parent #1 - pathogenic g.29090054G>A g.28694066G>A - - CHEK2_000009 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/. 13 c.1427C>T r.(?) p.(Thr476Met) Parent #1 - pathogenic g.29090054G>A g.28694066G>A - - CHEK2_000009 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs142763740 Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown - VUS g.29090054G>A g.28694066G>A CHEK2(NM_001005735.1):c.1556C>T (p.(Thr519Met)), CHEK2(NM_007194.4):c.1427C>T (p.T476M) - CHEK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown - VUS g.29090054G>A g.28694066G>A CHEK2(NM_001005735.1):c.1556C>T (p.(Thr519Met)), CHEK2(NM_007194.4):c.1427C>T (p.T476M) - CHEK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown - VUS g.29090054G>A g.28694066G>A CHEK2(NM_001005735.1):c.1556C>T (p.(Thr519Met)), CHEK2(NM_007194.4):c.1427C>T (p.T476M) - CHEK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown - VUS g.29090054G>A g.28694066G>A CHEK2(NM_001005735.1):c.1556C>T (p.(Thr519Met)), CHEK2(NM_007194.4):c.1427C>T (p.T476M) - CHEK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown - VUS g.29090054G>A g.28694066G>A CHEK2(NM_001005735.1):c.1556C>T (p.(Thr519Met)), CHEK2(NM_007194.4):c.1427C>T (p.T476M) - CHEK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown ACMG likely pathogenic g.29090054G>A g.28694066G>A - - CHEK2_000009 ACMG: PS3,PM5,PP3; Desrichard et al. 2011. Breast Cancer Res 13: R119; Roeb et al. 2012. Hum Mol Genet 21: 2738 - - rs142763740 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown ACMG likely pathogenic g.29090054G>A g.28694066G>A - - CHEK2_000009 ACMG grading: PM2,PM3,PP1,PP3; Arnoldi et al. 2012. Clin Genet 81: 150 - - rs142763740 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - Germany - - - - - 1 Andreas Laner
+?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown ACMG likely pathogenic g.29090054G>A - - - CHEK2_000009 ACMG grading: PS3,PM2,PM5,PP3 German S3 indication criteria not fulfilled, triple-negative breast cancer at 48 years, metastasized; grandfather ms colon cancer at 56 years. Desrichard et al. 2011. Breast Cancer Res 13: R119; Roeb et al. 2012. Hum Mol Genet 21: 2738 - rs142763740 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.1427C>T r.(?) p.(Thr476Met) Parent #1 - NA g.29090054G>A - chr22_29090054_G_A - CHEK2_000009 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 83/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 83 BRIDGES consortium
?/. - c.1427C>T r.(?) p.(Thr476Met) Parent #1 - NA g.29090054G>A - chr22_29090054_G_A - CHEK2_000009 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 45/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 45 BRIDGES consortium
?/. - c.1427C>T r.(?) p.(Thr476Met) Unknown - VUS g.29090054G>A - CHEK2(NM_001005735.1):c.1556C>T (p.(Thr519Met)), CHEK2(NM_007194.4):c.1427C>T (p.T476M) - CHEK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1427C>T r.(?) p.(Thr476Met) Unknown ACMG pathogenic (dominant) g.29090054G>A g.28694066G>A - - CHEK2_000009 - - 128060 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_15 - - F - Brazil - - - - - 1 Giovana Torrezan
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