Variant #0000439058 (NC_000018.9:g.48575235G>A, SMAD4(NM_005359.5):c.424+5G>A)

Individual ID 00207948
Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48575235G>A
DNA change (hg38) g.51048865G>A
Published as -
ISCN -
DB-ID SMAD4_000127 See all 5 reported entries
Variant remarks ACMG grading: PP3; This variant was sigma-ca at age 52y, MSS, no loss of MMR genes in IHC; several cancers in maternal side (CRC and BC);
Reference -
ClinVar ID -
dbSNP ID rs200772603
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00021 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 ?/. - c.424+5G>A r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208993 DNA SEQ-NG - - - 1 Andreas Laner