Individual #00052043

ID_report -
Reference -
Remarks Patient had CRC @48yo.
Father had CRC @58yo, isolated PMS2 loss on tumour. Duplication could not be tested as deceased.
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HNPCC-1 (Lynch)
Owner name Ian Berry


Phenotypes

cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome) (HNPCC-1 (Lynch))   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Family/Criteria     

Family/History     

Tumor/IHC     

Tumor/MSI     

Owner     
0000038644 - - - Unknown - - - - - - - - MLH1+, MSH2+, MSH6+, PMS2- n/a Ian Berry



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051990 DNA MLPA;SEQ-NG - - PMS2 1 Ian Berry



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

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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.(6018328_6022454)_(6027252_6029430)dup - Ex11-12 duplication; c.(1144+1_1145-1)_(2174+1_?) - PMS2_000449 Please note - ambiguity exists in determining 3' extent of duplication due to presence of pseudogenes for PMS2 ex12 onwards. 3' limit (exon 12) and location (tandem duplication within gene) confirmed in case 1 by RNA analysis, and inferred in cases 2 and 3 due to identical MLPA results. - - - Germline - - - 0 - Ian Berry PMS2 - - - - - 10i_12i NM_000535.5:c.(1144+1_1145-1)_(2174+1_2175-1)dup - pathogenic r.spl? p.? - - - - - - - - - - - - - - - - - - -
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