Full data view for gene CHEK2

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

32 entries on 1 page. Showing entries 1 - 32.
Legend   How to query  

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     
-/- 11 c.1100del r.(?) p.(Thr367Metfs*15) Unknown kConFab likely benign g.29091857del g.28695869del CHEK2 1100 del C - CHEK2_000001 - kConFab variant classification: LCS - - Unknown - 18/1658 - - - DNA SEQ - - cancer, breast - - 18 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 18 kConFab - Heather Thorne
./. 11 c.1100del r.(?) p.(Thr367Metfs*15) Unknown - - g.29091857del g.28695869del - - CHEK2_000001 Ook CHEK2 c.1100delC - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
./. 11 c.1100del r.(?) p.(Thr367Metfs*15) Both (homozygous) - - g.29091857del g.28695869del - - CHEK2_000001 Brandao 2011, c.692C>T leidt tot meer exon 11 skipping maar wt transcript ook gewoon aanwezig. Patient heeft ook CHEK2 c.1100delC homozygoot en BRCA2 VUS c.2755G>A - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
./. 11 c.1100del r.(?) p.(Thr367Metfs*15) Unknown - - g.29091857del g.28695869del - - CHEK2_000001 also CHEK2 c.1100del - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-4696 - 1 Arjen Mensenkamp
./. 11 c.1100del r.(?) p.(Thr367Metfs*15) Unknown - - g.29091857del g.28695869del - - CHEK2_000001 also CHEK2 c.1100del - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P15-1636 - 1 Arjen Mensenkamp
./. 11 c.1100del r.(?) p.(Thr367Metfs*15) Parent #1 - - g.29091857del g.28695869del - - CHEK2_000001 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
./. - c.1100del r.(?) p.(Thr367Metfs*15) Parent #1 - pathogenic g.29091857del g.28695869del 1100delC - CHEK2_000001 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.1100del r.(?) p.(Thr367Metfs*15) Parent #1 - pathogenic g.29091857del g.28695869del 1100delC - CHEK2_000001 - 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 - 2 Melissa DeRycke
+/. 11 c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del g.28695869del CHEK2(NM_001005735.1):c.1229delC (p.(Thr410Metfs*15)), CHEK2(NM_007194.4):c.1100delC (p.T367Mfs*15) - CHEK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del g.28695869del CHEK2(NM_001005735.1):c.1229delC (p.(Thr410Metfs*15)), CHEK2(NM_007194.4):c.1100delC (p.T367Mfs*15) - CHEK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del g.28695869del CHEK2(NM_001005735.1):c.1229delC (p.(Thr410Metfs*15)), CHEK2(NM_007194.4):c.1100delC (p.T367Mfs*15) - CHEK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del g.28695869del CHEK2(NM_001005735.1):c.1229delC (p.(Thr410Metfs*15)), CHEK2(NM_007194.4):c.1100delC (p.T367Mfs*15) - CHEK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1100del r.(?) p.(Thr367Metfs*15) Unknown - likely pathogenic g.29091857del g.28695869del - - CHEK2_000001 Weischer ; 2008. J Clin Oncol. 26: 542: aggregated odds ratios of 2.7 (95% CI, 2.1 to 3.4) for unselected breast cancer, 2.6 (95% CI, 1.3 to 5.5) for early-onset breast cancer, and 4.8 (95% CI, 3.3 to 7.2) for familial breast cancer (=3-5 fold risk); Cybulski ; 2004. Am J Hum Genet 75: 1131:Multi-organ cancers (Colon, Prostate, Kidney and Thyroid) - - rs555607708 Germline ? - - - - DNA SEQ-NG-I - gene panel, 12 genes (see dept. web site) BROVCA 129514 - Patient analysed for HBOC F ? Germany - - - - - 1 Andreas Laner
+/. 11 c.1100del r.(?) p.(Thr367Metfs) Parent #1 - pathogenic g.29091857del g.28695869del 1100delC - CHEK2_000001 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.1100del r.(?) p.(Thr367Metfs*15) Unknown - pathogenic g.29091857del g.28695869del 1100delC - CHEK2_000001 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del g.28695869del CHEK2(NM_001005735.1):c.1229delC (p.(Thr410Metfs*15)), CHEK2(NM_007194.4):c.1100delC (p.T367Mfs*15) - CHEK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del g.28695869del CHEK2(NM_001005735.1):c.1229delC (p.(Thr410Metfs*15)), CHEK2(NM_007194.4):c.1100delC (p.T367Mfs*15) - CHEK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del g.28695869del CHEK2(NM_001005735.1):c.1229delC (p.(Thr410Metfs*15)), CHEK2(NM_007194.4):c.1100delC (p.T367Mfs*15) - CHEK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1100del r.(?) p.Thr367Metfs*15 Unknown ACMG pathogenic g.29091857del g.28695869del - - CHEK2_000001 ACMG grading: PP1,PS4,PS3,PVS1,PP5; Bell ; 1999. Science 286: 2528 Li-Fraumeni Snydome Adank ; 2011. J Med Genet 48: 860 CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women Cybulski ; 2011. J Clin Oncol 29: 3747 BC risk is dependend on family history (20% if no cancer in famly, 28 % if one affected famliy member 2-grade, 34% if one affected famly member 1 grade and 44% two affected famly members) Weischer ; 2008. J Clin Oncol. 26: 542 aggregated odds ratios of 2.7 (95% CI, 2.1 to 3.4) for unselected breast cancer, 2.6 (95% CI, 1.3 to 5.5) for early-onset breast cancer, and 4.8 (95% CI, 3.3 to 7.2) for familial breast cancer (=3-5 fold risk) Cybulski ; 2004. Am J Hum Genet 75: 1131 Multi-organ cancers (Colon, Prostate, Kidney and Thyroid) - - rs555607708 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.1100del r.(?) p.Thr367Metfs*15 Unknown ACMG pathogenic g.29091857del g.28695869del - - CHEK2_000001 ACMG grading: PS3,PP5,PS4,PVS1,PP1; reported in Bell 1999. Science 286: 2528; Adank 2011. J Med Genet 48: 860; Cybulski 2011. J Clin Oncol 29: 3747; Weischer 2008. J Clin Oncol. 26: 542; Cybulski 2004. Am J Hum Genet 75: 1131 - - rs555607708 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.1100del r.(?) p.(Thr367Metfs*15) Unknown ACMG pathogenic g.29091857del g.28695869del - - CHEK2_000001 ACMG: PVS1,PS3,PS4,PP1,PP5; Bell et al. 1999. Science 286: 2528; Adank et al. 2011. J Med Genet 48: 860; Cybulski et al. 2011. J Clin Oncol 29: 3747; Weischer et al. 2008. J Clin Oncol. 26: 542; Cybulski et al. 2004. Am J Hum Genet 75: 1131 - - rs555607708 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.1100del r.(?) p.(Thr367Metfs*15) Unknown ACMG pathogenic g.29091857del g.28695869del - - CHEK2_000001 ACMG: PVS1,PS3,PS4,PP1,PP5; BC at age 66y, mother Thyroid-Cancer at age 70y; Bell et al. 1999. Science 286: 2528; Adank et al. 2011. J Med Genet 48: 860; Cybulski et al. 2011. J Clin Oncol 29: 3747; Weischer et al. 2008. J Clin Oncol. 26: 542; Cybulski et al. 2004. Am J Hum Genet 75: 1131 - - rs555607708 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.1100del r.(?) p.(Thr367Metfs*15) Unknown ACMG pathogenic g.29091857del g.28695869del - - CHEK2_000001 ACMG grading: PVS1,PS3,PS4,PP1,PP5 multiple polyps (hyperplastic and sessile serrated) at age 62y - - rs555607708 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.1100del r.(?) p.(Thr367Metfs*15) Parent #1 - NA g.29091857del - chr22_29091856_AG_A - CHEK2_000001 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 - 885/60466 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 - 885 BRIDGES consortium
?/. - c.1100del r.(?) p.(Thr367Metfs*15) Parent #1 - NA g.29091857del - chr22_29091856_AG_A - CHEK2_000001 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 - 254/53461 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 - 254 BRIDGES consortium
+/. 11 c.1100del r.(?) p.(Thr367MetfsTer15) Unknown ACMG pathogenic g.29091857del g.28695869del - - CHEK2_000001 - - - - Germline - - - - - DNA SEQ-NG blood - cancer, pancreatic - - - F - Belgium - - - - - 1 Kathleen Claes
+/. 11 c.1100del r.(?) p.(Thr367MetfsTer15) Unknown ACMG pathogenic g.29091857del g.28695869del - - CHEK2_000001 - - - - Germline - - - - - DNA SEQ-NG blood - cancer, pancreatic - - - F - Belgium - - - - - 1 Kathleen Claes
+/. 11 c.1100del r.(?) p.(Thr367MetfsTer15) Unknown ACMG pathogenic g.29091857del g.28695869del - - CHEK2_000001 - - - - Germline - - - - - DNA SEQ-NG blood - cancer, pancreatic - - - M - Belgium - - - - - 1 Kathleen Claes
+/. - c.1100del r.(?) p.(Thr367MetfsTer15) Parent #1 ACMG pathogenic (dominant) g.29091857del g.28695869del - - CHEK2_000001 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat117 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1100del r.(?) p.(Thr367MetfsTer15) Parent #1 ACMG pathogenic (dominant) g.29091857del g.28695869del - - CHEK2_000001 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat118 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del g.28695869del - - CHEK2_000001 secondary finding PubMed: Schuermans 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Schuermans 2022 secondary finding analysis 329 adult patients suffering from undiagnosed rare disease - - Belgium - - - - - 1 Johan den Dunnen
+/. - c.1100del r.(?) p.(Thr367MetfsTer15) Unknown - pathogenic g.29091857del - - - CHEK2_000001 - - - rs555607708 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.