Variant #0000454869 (NC_000018.9:g.(?_48556583)_(48591977_48593388)del, SMAD4(NM_005359.5):c.(?_-538)_(1139+1_1140-1)del)

Individual ID 00218923
Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_48556583)_(48591977_48593388)del
DNA change (hg38) -
Published as heterozygous deletion of a probe upstream of NC exon 4 and all probes located within NC exon 4, loss of all probes from coding exons 1–8
ISCN -
DB-ID SMAD4_000138 See all 2 reported entries
Variant remarks ACMG PVS1, PM2
Reference Journal: Calva 2011
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 Karl Heinimann
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     
SMAD4 NM_005359.5 ?/+ _1_9i c.(?_-538)_(1139+1_1140-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219994 DNA MLPA - screening SMAD4 1 Karl Heinimann