Individual #00173822

ID_report 129643
Reference -
Remarks Adeno-Ca at age 40y (pT3, N0, M0), isolated loss of PMS2 in tumor
Gender M
Consanguinity ?
Country Germany
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Andreas Laner


Phenotypes

cancer, colorectal (CRC) (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cysts     

Diagnosis/Original     

Eye/Retina     

Neoplasm     

Owner     
0000138675 40y Unknown 40y - - - - CRC colon ascendens (pT3, N0, M0); isolated loss of PMS2 in tumor - - - normal colorectal symptoms ? ? Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174712 DNA SEQ-NG-I - - MLH1, PMS2 1 Andreas Laner



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
7 Unknown +?/+? g.6048649A>T - - - PMS2_000017 ACMG grading: PVS1, PM2, PM3, PP4, PP5 class 5 (Literature:PMID 27476653; PMID 26681312; PMID 28466842) - - rs587780059 Germline ? - - 0 - Andreas Laner PMS2 - - - - - 1 NM_000535.5:c.2T>A - likely pathogenic r.? p.? - - - - - - - - - - - - - - - - - - -
Legend