Variant #0000179010 (NC_000002.11:g.47610843_47615751del, MSH2(NM_000251.2):c.-19488_-14580del)

Individual ID 00111387
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 c.859-1462_*1999del
ISCN -
DB-ID EPCAM_000001 See all 18 reported entries
Variant remarks 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor
Reference PubMed: Ligtenberg 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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
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Variant on transcripts


Gene     

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DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1 c.-19488_-14580del r.? p.?
EPCAM NM_002354.2 +/. 7i_9_ c.859-1462_*1999del r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934]



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000111852 DNA MLPA;SEQ - - EPCAM 1 Johan den Dunnen