Full data view for gene PMS2


PMS2 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000535.5 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - VUS g.6048650T>C g.6009019T>C - - PMS2_000256 - - - - Germline - - - 0 - DNA SEQ - - CRC - - adenocarcinoma colon and caecum 4x CRC in family (incl 2 in index), 3 confirmed PMS2-def (incl 2 in index), MSI-high M - Netherlands - - 0 - - 1 Arjen Mensenkamp
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Senter 2008 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - PubMed: Borras 2013 - - Germline - - - 0 - DNA SEQ - - cancer, endometrial - - - ? - - - - 0 - - 1 Gabriel Capella
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+?/. 1 c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
+/. 1 c.1A>G r.(?) p.(Met1?) Maternal (confirmed) - pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 - Ian Berry, Leeds Genetics Laboratory - - Germline - - - 0 - DNA ? - - cancer, brain - - Patient and sister deceased with PNET, suspected CMMRD. Tumours in both found to be negative for PMS2 staining (normal & tumour cells). Compound heterozygosity for c.1A>G and c.137G>T confirmed by parental testing. No known phenotype in parents.;InSiGHT LOVDv2 ID:1017231; F - (United Kingdom (Great Britain)) white - 0 pedigree - 1 Ian Berry
+?/. 1 c.1A>G r.(?) p.Met1Val Unknown - likely pathogenic g.6048650T>C g.6009019T>C c.1A>G - PMS2_000256 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
+/. 1 c.1A>G r.(?) p.0? Unknown - pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 ICCON data, Westmead, NSW - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? - c.1A>G r.(?) p.(Met1?) Paternal (inferred) - likely pathogenic g.6048650T>C g.6009019T>C - - PMS2_000256 Insight class: 4 - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - - HNPCC - - - F - Russian Federation Russian - 0 - - 1 Grigorij Yanus
Legend