Genomic variant #0000179008

Individual ID 00111385
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
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 (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1 c.-19488_-14580del pathogenic 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 pathogenic 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