Variant #0000595688 (NC_000002.11:g.47611617_47628424del, MSH2(NM_000251.2):-)

Individual ID 00263990
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47611617_47628424del
DNA change (hg38) g.47384478_47401285del
Published as g.47611616::47628425
ISCN -
DB-ID MSH2_001888
Variant remarks deletion creates possible fusion transcript EPCAM::MSH2
Reference PubMed: Arnold 2020
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 Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +?/. - - r.? p.?
EPCAM NM_002354.2 +?/. 7i_9_ c.859-688_*415{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265104 DNA MLPA;SEQ-NG-I germline - EPCAM, MLH1, MSH2, MSH6, PMS2 1 Andreas Laner