Full data view for gene PMS2


Criteria used for classification are available from 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 We encourage submission of relevant unpublished information to assist in the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.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

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Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 2 c.86G>C VUS r.(?) p.(Gly29Ala) Unknown g.6045600C>G - c.86C>G - PMS2_000370 Variant has been reported on ClinVar. Bioinformatically highly suspect in DNA mismatch and repair Domain, AA und Nuk highly conserved InSiGHT Variant Interpretation Committee April 2016 - - Germline - - - 0 - DNA ? - - cancer, breast - InSiGHT Variant Interpretation Committee April 2016 index with BC, no CRC known in MGZ 95242 (MammaCa triple-negative 49 y). - - - - - 0 - - 1 Elke Holinski-Feder
?/. 2 c.86G>C VUS r.(?) p.(Gly29Ala) Unknown g.6045600C>G - c.86C>G - PMS2_000370 Variant reported on ClinVar. Bioinformatically highly suspect in DNA mismatch and repair Domain, AA und Nuk highly conserved. InSiGHT Variant Interpretation Committee April 2016 - - Germline - - - 0 - DNA ? - - cancer, breast - InSiGHT Variant Interpretation Committee April 2016 suspect of hered. Mamma- and Ovarial Ca, eventually somatic BRCA-Mutations detected? MammaCa 37 y; family history not informative. - - - - - 0 - - 1 Elke Holinski-Feder
?/. 2 c.86G>C VUS r.(?) p.(Gly29Ala) Unknown g.6045600C>G - c.86C>G - PMS2_000370 Variant reported on ClinVar. Bioinformatically highly suspect in DNA mismatch and repair Domain, AA und Nuk highly conserved InSiGHT Variant Interpretation Committee April 2016 - - Germline - - - 0 - DNA ? - - cancer, breast - InSiGHT Variant Interpretation Committee April 2016 MammaCa ED 55 y, paternal aunt and grandmother both BrCa, Tu block requested for IHC - - - - - 0 - - 1 Elke Holinski-Feder
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