Unique variants in the CHEK2 gene

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

33 entries on 1 page. Showing entries 1 - 33.
Legend   How to query  

Effect     

Reported     

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