All variants in the PMS2 gene


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/+? 1 c.2T>A r.(?) p.(Met1?) ACMG likely pathogenic g.6048649A>T g.6009018A>T - - PMS2_000017 ACMG grading: PVS1, PM2, PM3, PP4, PP5 class 5 (Literature:PMID 27476653; PMID 26681312; PMID 28466842) - - rs587780059 Germline ? - - 0 - Andreas Laner
?/. 1 c.2T>A r.(?) p.0? - VUS g.6048649A>T g.6009018A>T - - PMS2_000017 Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - Sigurdis Haraldsdottir
?/. 1 c.2T>A r.(?) p.Met1? - VUS g.6048649A>T g.6009018A>T - - PMS2_000017 Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - Sigurdis Haraldsdottir
?/. 1 c.2T>A r.(?) p.Met1? - VUS g.6048649A>T g.6009018A>T - - PMS2_000017 Founder mutation; Carrier frequency in Iceland: 0.092% - odds ratio for colorectal cancer 2.2 (0.94-5.3); endometrial cancer 7.5 (2.4-23.5); ovarian cancer 6.6 (1.8-24.3) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - Sigurdis Haraldsdottir
+?/. - c.2T>A r.(?) p.(Met1?) - likely pathogenic g.6048649A>T g.6009018A>T PMS2(NM_000535.5):c.2T>A (p.M1?) - PMS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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