Variant #0000179008 (NC_000002.11:g.47610843_47615751del, MSH2(NM_000251.2):c.-19488_-14580del)

Individual ID 00111385
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.47610843_47615751del
DNA change (hg38) g.47383704_47388612del
Published as -
ISCN -
DB-ID EPCAM_000001 See all 18 reported entries
Variant remarks 4909 bp deletion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; fusion transcript EPCAM/MSH2; MSH2 variants in tumor
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.-19488_-14580del r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279] p.?
EPCAM NM_002354.2 +/. 7i_9_ c.859-1462_*1999del r.[-358_858::NM_000251.2:r.212_*279, -358_858::NM_000251.2:r.-4237_-4127ins212_*279] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111850 DNA;RNA MLPA;RT-PCR;SEQ - - EPCAM 1 Johan den Dunnen