Individual #00187034

ID_report -
Reference InSiGHT Variant Interpretation Committee April 2016
Remarks IHC loss of MSH2 and MSH6, MLH1 + PMS2 pos and MSI-H tu; index: [C18.6 (51)], [C67 (51)], [C66 (51)], [C65 (51)], [C18.0 (52)]; no further variants VUS in MSH2; 3 additional members with CC at age 46y, 52y and ?y
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HNPCC
Owner name Elke Holinski-Feder


Phenotypes

cancer, colorectal, nonpolyposis, hereditary (HNPCC, Lynch syndrome) (HNPCC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000146912 - - Malignant neoplasm of descending colon (C18.6) Unknown - - 51y - - - - Elke Holinski-Feder
0000146913 - - Malignant neoplasm of bladder (C67) Unknown - - 51y - - - - Elke Holinski-Feder
0000146914 - - Malignant neoplasm of ureter (C66) Unknown - - 51y - - - - Elke Holinski-Feder
0000146915 - - Malignant neoplasm of renal pelvis (C65) Unknown - - 51y - - - - Elke Holinski-Feder
0000146916 - - Malignant neoplasm of cecum (C18.0) Unknown - - 52y - - - - Elke Holinski-Feder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188003 DNA ? - - MSH2 1 Elke Holinski-Feder



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
2 Unknown +/. - pathogenic g.47637348T>A g.47410209T>A - - MSH2_000292 - InSiGHT Variant Interpretation Committee April 2016 - - Germline - - - 0 - Elke Holinski-Feder MSH2 - - - - - 3 NM_000251.2:c.482T>A - r.(?) p.(Val161Asp) - - - - - - - - - - - - - - - - - - - -
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