Variant #0000179006 (NC_000002.11:g.47605142_47627978del, MSH2(NM_000251.2):c.-25189_-2353del)

Individual ID 00111383
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47605142_47627978del
DNA change (hg38) g.47378003_47400839del
Published as c.555+894_*14194del
ISCN -
DB-ID EPCAM_000002 See all 2 reported entries
Variant remarks linked family, 22.8 Kb deletion; fusion transcript EPCAM/MSH2; MSH2 promoter methylation; haplotype differs from FamHK-A
Reference PubMed: Ligtenberg 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1 c.-25189_-2353del NM_002354.2:r.-358_555::r.212_*279 p.?
EPCAM NM_002354.2 +/. 5i_9_ c.555+926_*14226del r.-358_555::NM_000251.2:r.212_*279 p.Tyr186Glufs*13



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111848 DNA;RNA MLPA;PCR;RT-PCR;SEQ - - EPCAM 1 Johan den Dunnen