All variants in the CHEK2 gene

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

53 entries on 1 page. Showing entries 1 - 53.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
+/+ 1-15 deletion of exons 1-15 . Hetero N/A . https://www.ncbi.nlm.nih.gov/clinvar/RCV000197635/ g.(?_28687743)_(28741834_?)del - CHEK2_000003 - - Lina Nuñez-Private Practice
?/? 2 c.7C>T p.(Arg3Trp) Hetero no r.(?) - g.28734715G>A - CHEK2_000025 - - Lina Nuñez-Hospital Alemán
?/? 2 c.46A>C p.(Ser16Arg) Hetero no r.(?) - g.28734676T>G - CHEK2_000030 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 2 c.80A>C p.(Gln27Pro) Hetero no r.(?) - g.28734642T>G - CHEK2_000017 - - Lina Nuñez-Private Practice
?/? 2 c.190G>A p.(Glu64Lys) Hetero no r.(?) - g.28734532C>T - CHEK2_000028 - - Lina Nuñez-Private Practice
-?/-? 2 c.252A>G p.(=) Hetero no r.(=) - g.28734470T>C - CHEK2_000021 - - Laura Vargas Roig-IMBECU
-?/- 2 c.252A>G p.(=) Hetero no r.(=) RECLASSIFIED NOVEMBER 2020 g.28734470T>C - CHEK2_000021 - - Silvina Sisterna-Hospital de Comunidad
+/+ 2 c.283C>T p.(Arg95*) Hetero N/A r.(?) - g.28734439G>A - CHEK2_000026 - - Pablo Kalfayan-Hospital Italiano
./-? 2i c.319+379A>G p.(=) Hetero no r.(=) - g.28734024T>C - CHEK2_000007 - - Silvina Sisterna-Hospital de Comunidad
./-? 2i c.319+379A>G p.(=) Homo no r.(=) - g.28734024T>C - CHEK2_000007 - - Silvina Sisterna-Hospital de Comunidad
./-? 2i c.319+379A>G p.(=) Hetero no r.(=) - g.28734024T>C - CHEK2_000007 - - Silvina Sisterna-Hospital de Comunidad
./-? 2i c.319+379A>G p.(=) Hetero BRCA2 r.(=) - g.28734024T>C - CHEK2_000007 - - Silvina Sisterna-Hospital de Comunidad
+/+? 3 c.349A>G p.(Arg117Gly) Hetero N/A r.(?) - g.28725338T>C - CHEK2_000022 - - Dolores Mansilla-Instituto Roffo
+?/+? 3 c.349A>G p.(Arg117Gly) Hetero N/A r.(?) - g.28725338T>C - CHEK2_000022 - - Claudia Martin-Hospital de Córdoba
+?/+? 3 c.349A>G p.(Arg117Gly) Hetero no r.(349a>g) - g.28725338T>C - CHEK2_000022 - - Instituto Nacional del Cancer
+?/+? 3 c.433C>T p.(Arg145Trp) Hetero N/A r.(?) - g.28725254G>A - CHEK2_000009 - - Gonzalo Tabares-CEMA
+/+? 4 c.470T>C p.(Ile157Thr) Hetero no r.(470u>c) - g.28725099A>G - CHEK2_000045 - - Pablo Kalfayan - Consultorio Particular.
+/. 4 c.470T>C p.(Ile157Thr) Hetero N/A r.(470u>c) - g.28725099A>G - CHEK2_000045 - - Pablo Kalfayan-Hospital Italiano
+?/+? 4 c.499G>A p.(Gly167Arg) Hetero no r.(?) - g.28725070C>T - CHEK2_000033 - - Dolores Mansilla-Instituto Roffo
+?/+? 4 c.499G>A p.(Gly167Arg) Hetero no r.(?) - g.28725070C>T - CHEK2_000033 - - Pablo Kalfayan-Hospital Italiano
?/? 4 c.549G>C p.(Leu183Phe) Hetero no r.(?) - g.28725020C>G - CHEK2_000004 - - Alvaro Yanzi-Instituto San Marcos
?/? 4 c.580A>C p.(Ser194Arg) Hetero no r.(?) RECLASSIFIED MARCH 2018 g.28724989T>G - CHEK2_000011 - - Vanesa Lotersztein-Genesia/Progenitest
?/? 4i c.592+3A>T p.? Hetero no r.spl? - g.28724974T>A - CHEK2_000014 - - Lina Nuñez-Hospital Alemán
+?/? 4i c.592+3A>T p.? Hetero no r.spl? - g.28724974T>A - CHEK2_000014 - - Pablo Kalfayan-Hospital Italiano
+/+ 4i-5i c.592+3A>T p.? Hetero N/A r.spl? - g.28724974T>A - CHEK2_000014 - - Silvina Sisterna-Hospital de Comunidad
+?/+? 4i c.592+3A>T p.? Hetero N/A r.? - g.28724974T>A - CHEK2_000014 - - Pablo Kalfayan-Hospital Italiano
?/? 4 c.663C>G p.(Ile221Met) Hetero no r.(?) - g.28719415G>C - CHEK2_000010 - - Gonzalo Tabares-CEMA
+/+ 7 c.793-1G>A p.(?) Hetero N/A r.(?) - g.28710060C>A - CHEK2_000049 - - Lina Nuñez-Private Practice
+/+ 6i c.793-1G>A p.? Hetero N/A r.spl? - g.28710060C>T - CHEK2_000049 - - Silvina Sisterna-Hospital de Comunidad
?/? 5 c.949A>G p.(Lys317Glu) Hetero no r.(?) - g.28699897T>C - CHEK2_000032 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 9 c.949A>G p.(Lys317Glu) Hetero no r.(?) - g.28699897T>C - CHEK2_000032 - - Silvina Sisterna-Hospital de Comunidad
?/? 9 c.949A>G p.(Lys317Glu) Hetero PALB2 r.(949a>g) - g.28699897T>C - CHEK2_000032 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 9 c.992T>C p.(Met331Thr) Hetero no r.(?) RECLASSIFIED MARCH 2018 g.28699854A>G - CHEK2_000002 - - Vanesa Lotersztein-Genesia/Progenitest
+/+ 11 c.1100del p.(Thr367Metfs*15) Hetero N/A r.(1100del) - g.28695869del - CHEK2_000044 - - Lina Nuñez-Private Practice
+/+ 11 c.1100del p.(Thr367Metfs*15) Hetero N/A r.(1100del) - g.28695869del - CHEK2_000044 - - Pablo Kalfayan-Hospital Italiano
+/+ 11 c.1100delC p.(Thr367Metfs*15) Hetero BRCA1 r.(?) - g.28695869delG - CHEK2_000035 - - Santiago Acevedo-Hospital Británico (Servicio de Mastologiía)
?/? 11 c.1175C>T p.(Ala392Val) Hetero no r.(?) - g.28695794G>A - CHEK2_000043 - - Pablo Kalfayan-Hospital Italiano
?/? 12 c.1211A>G p.(Tyr404Cys) Hetero no r.(1211a>g) - g.28695758T>C - CHEK2_000046 - - Silvina Sisterna-Hospital de Comunidad
?/+? 12 c.1259G>A p.(Cys420Tyr) Hetero no r.(?) RECLASSIFIED JULY 2022 g.28695710C>T - CHEK2_000008 - - Rita Valdez-Hospital Alemán
?/? 12 c.1270T>C p.(Tyr424His) Hetero no r.(?) - g.28695232A>G - CHEK2_000015 - - Lina Nuñez-Private Practice
?/+? 12 c.1270T>C p.(Tyr424His) Hetero no r.(1270u>c) RECLASSIFIED JULY 2022 g.28695232A>G - CHEK2_000015 - - Lina Nuñez-Private Practice
?/? 12 c.1270T>C p.(Tyr424His) Hetero no r.(1270u>c) - g.28695232A>G - CHEK2_000015 - - Lina Nuñez-Private Practice
+/+? 12 c.1283C>T p.(Ser428Phe) Hetero N/A r.(?) RECLASSIFIED JUNE 2022. RISK FACTOR. g.28695219G>A - CHEK2_000020 - The c.1283C>T (p.Ser428Phe) variant is well described in the literature, and is thought to be a founder variant in the Ashkenazi Jewish population (Shaag et al. 2005). This variant is a low penetrance allele, resulting in a two-fold increase in breast cancer risk for women over 50. Lina Nuñez-Private Practice
+/+? 12 c.1283C>T p.(Ser428Phe) Hetero N/A r.(?) RISK FACTOR. g.28695219G>A - CHEK2_000020 - This variant is a low penetrance allele, resulting in a two-fold increase in breast cancer risk for women over 50. Erika Stegmayer-CIOC
+/+? 12 c.1283C>T p.(Ser428Phe) Hetero no r.(1283c>u) RECLASSIFIED JULY 2022. RISK FACTOR. g.28695219G>A - CHEK2_000020 - - Lina Nuñez-Private Practice
?/? 12 c.1312G>T p.(Asp438Tyr) Hetero no r.(?) - g.28695190C>A - CHEK2_000005 - - Norma Rossi-Hospital de Córdoba
?/? 13 c.1406T>C p.(Val469Ala) Hetero no r.(?) - g.28694087A>G - CHEK2_000031 - - Jesica Ramirez-Hospital Central de Mendoza
+?/+? 13 c.1427C>T p.(Thr476Met) Hetero no r.(?) - g.28694066G>A - CHEK2_000006 - - Rita Valdez-Hospital Alemán
?/+? 12 c.1427C>T p.(Thr476Met) Hetero no r.(?) - g.28694066G>A - CHEK2_000006 - - Luisina Bruno-Instituto Fleming
?/? 13i c.1461+6T>C p.? Hetero no r.spl? - g.28694026A>G - CHEK2_000050 - - Pablo Kalfayan-Hospital Italiano
-/-? 15 c.1497G>C p.(=) Hetero no r.(=) - g.28689180C>G - CHEK2_000012 - - Pablo Kalfayan-Hospital Italiano
+?/+? 15 c.1555C>T p.(Arg519*) Hetero N/A r.(?) - g.28687974G>A - CHEK2_000024 - - Lina Nuñez-Hospital Alemán
?/? 15 c.1556G>T p.(Arg519Leu) Hetero no r.(1556g>u) - g.28687973C>A - CHEK2_000016 - - Pablo Kalfayan-Hospital Italiano
Legend   How to query