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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000535.6 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
-?/-? 2 c.52A>G r.(?) p.(Ile18Val) Unknown - likely benign g.6045634T>C g.6006003T>C - - PMS2_000009 Insight class: 2 - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.52A>G r.(?) p.(Ile18Val) Unknown - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.52A>G r.(?) p.(Ile18Val) Unknown - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.52A>G r.(?) p.(Ile18Val) Unknown - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.52A>G r.(?) p.(Ile18Val) Unknown - likely benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.52A>G r.(?) p.(Ile18Val) Unknown - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.52A>G r.(?) p.(Ile18Val) Unknown - VUS g.6045634T>C g.6006003T>C - - PMS2_000009 Carrier frequency in Iceland (%): 1.73; Odds ratio for CRC (95%CI): 0.9 (0.67-1.21) PubMed: Haraldsdottir 2018 - - Germline - 1.73 - 0 - DNA ? - WGS (Illumina) 8,453 Icelanders, irrespective cancer status, mean depth >, 10X, all patients with dMMR CRC diagnosed 2000-2009 germline DNA typed for WGS MMR, when one of three founder mutations was absent WGS performed, screen date 2015-01-01 CRC - PubMed: Haraldsdottir 2018 - - - Iceland - - 0 - - 1 Sigurdis Haraldsdottir
?/. 2 c.52A>G r.(?) p.(Ile18Val) Unknown - VUS g.6045634T>C g.6006003T>C - - PMS2_000009 - PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - ? - - - - 0 - - 1 Juul Wijnen
?/. 2 c.52A>G r.(?) p.(Ile18Val) Unknown - VUS g.6045634T>C g.6006003T>C - - PMS2_000009 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - M - Netherlands - - 0 - - 1 Carli Tops
?/. 2 c.52A>G r.(?) p.(Ile18Val) Parent #1 - VUS g.6045634T>C g.6006003T>C 780G>C (Ser260Ser) - PMS2_000009 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 2 c.52A>G r.(?) p.(Ile18Val) Parent #1 - VUS g.6045634T>C g.6006003T>C 780G>C - PMS2_000009 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 2 c.52A>G r.(?) p.(Ile18Val) Parent #1 - VUS g.6045634T>C g.6006003T>C 780G>C (S260S), 1621G>A (E541K) - PMS2_000009 - PubMed: Clendenning 2006 - - Germline - - - 0 - DNA ? - - ? - - - ? - - - - 0 - - 1 Michael Woods
?/. 2 c.52A>G r.(?) p.(Ile18Val) Unknown - VUS g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 - Mark Jenkins; John Hopper - - Germline - - - 0 - DNA SEQ - - ? - - Australian proband, segregation LR 1.1422 Ð [Aus CCFR] ? - - - - 0 - - 1 INSiGHT group
?/. 2 c.52A>G r.(?) p.Ile18Val Unknown - VUS g.6045634T>C g.6006003T>C c.354-1G>A + c.52A>G - PMS2_000009 - Mensenkamp and Ligtenberg - - Germline - - - 0 - DNA SEQ - - CRC - - MLH1 Methylation: no methylation; Method: MS-MLPA;InSiGHT LOVDv2 ID:1016871; M - - - - 0 - - 1 INSiGHT group
?/. 2 c.52A>G r.(?) p.Ile18Val Unknown - VUS g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 based on population freq Mensenkamp and Ligtenberg - - Germline - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 INSiGHT group
?/. 2 c.52A>G r.(?) p.(Ile18Val) Unknown - VUS g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 In vitro produced variant proteins are added to a LoVo extract and repair of a G·T mismatch on a plasmid is measured. PubMed: Drost 2013 - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 INSiGHT group
-?/. 2 c.52A>G r.(?) p.(Ile18Val) Parent #2 - likely benign g.6045634T>C g.6006003T>C - - PMS2_000009 in this patient in trans with the pathogenic variant c.1882C>T . c.52G segregates independently from c.1882 in this family. PubMed: Hendriks 2006 - - Germline - - - 0 - DNA SEQ - - CRC - - - M - Netherlands - - 0 - - 1 Carli Tops
-?/. 2 c.52A>G r.(?) p.Ile18Val Unknown - likely benign g.6045634T>C g.6006003T>C - - PMS2_000009 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 cancer, breast - - Mother (58, dec.) had Ovarian Cancer at 58 years old F - - - - 0 - - 1 Jack Ji
-?/. 2 c.52A>G r.(?) p.Ile18Val Unknown - likely benign g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2 c.52A>G r.(?) p.Ile18Val Unknown - likely benign g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. 2 c.52A>G r.(?) p.Ile18Val Unknown - likely benign g.6045634T>C g.6006003T>C c.52A>G - PMS2_000009 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Thomas Hansen
-?/. - c.52A>G r.(?) p.(Ile18Val) Unknown - likely benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52A>G r.(?) p.(Ile18Val) Unknown - benign g.6045634T>C g.6006003T>C PMS2(NM_000535.5):c.52A>G (p.I18V, p.(Ile18Val)) - PMS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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