LOVD - Variant listings for CHEK2

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Patient data (#0000518)
Disease breast cancer
Reference Kilpivaara et al., 2004, Peikuan Cong
Remarks -
# Reported 1
Mut. origin Inherited
Gender -
Occurrence Familial
De novo origin -
Geographic origin Finland
Ethnic origin Helsinki,Tampere
Population -
Submitter Peikuan Cong

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 14
DNA change c.1462-25A>G   (View in UCSC Genome Browser, Ensembl)
DNA published 1462-25 A-G
RNA change -
Protein -
Re-site -
Frequency -
Patients -
Controls -
DB-ID CHEK2_00013
Type Substitution
Location Intron
Template DNA
Technique IHC, PCR, SEQ
Tissue tumor tissue
Variant remarks -
Reference -

10 entries in CHEK2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
DNA published Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
Patients Descending
Ascending
Controls Descending
Ascending
DB-ID Descending
Ascending
Type Descending
Ascending
Location Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Tissue Descending
Ascending
Variant remarks Descending
Ascending
Reference Descending
Ascending
-?/? Unknown 02 c.252A>G 252A - p.Glu84Glu - - - - CHEK2_00006 Substitution Exon DNA DSCA, IHC, PCR, SEQ tumor tissue - -
?/? Unknown 02 c.319+44insA 319 + 44insA Common polymorphism - - - - - - CHEK2_00007 Insertion Intron DNA DSCA, IHC, PCR, SEQ tumor tissue - -
+/? Unknown 03 c.433C>T R145W - p.Arg145Trp - - - - CHEK2_00014 Substitution Exon DNA IHC, PCR, SEQ tumor tissue the proteins are unstable and functionally defective, and therefore likely represent classical loss-of-function mutants. -
?/? Unknown 03 c.444+24C>T Intron 2 444 + 24C - - - - - - CHEK2_00008 Substitution Intron DNA DSCA, IHC, PCR, SEQ tumor tissue - -
+/? Unknown 04 c.470T>C 470T - p.Ile157Thr - - - - CHEK2_00009 Substitution Exon DNA IHC, PCR, SEQ tumor tissue We found some evidence that the I157T variant is also associated with an increased risk of breast cancer, but the association is weaker than that for 1100delC. -
+/? Unknown 11 c.1100delC the 1100delC variant - p.Thr367MetfsX15 - - - - CHEK2_00001 Deletion Exon DNA DSCA, IHC, PCR, SEQ tumor tissue - lovddeng
?/? Unknown 12 c.1375+78C>G 1375+78C - - - - - - CHEK2_00010 Substitution Intron DNA IHC, PCR, SEQ tumor tissue - -
?/? Unknown 14 c.1462-211A>G 1462-211 A-G - - - - - - CHEK2_00011 Substitution Intron DNA IHC, PCR, SEQ tumor tissue - -
?/? Unknown 14 c.1462-198C>T 1462-198 C - - - - - - CHEK2_00012 Substitution Intron DNA IHC, PCR, SEQ tumor tissue - -
?/? Unknown 14 c.1462-25A>G 1462-25 A-G - - - - - - CHEK2_00013 Substitution Intron DNA IHC, PCR, SEQ tumor tissue - -

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