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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

16 entries on 1 page. Showing entries 1 - 16.
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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     
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Maternal grandmother (90 or older, dec.) had Liver at 89 years old; Sister (72, dec.) had Breast Cancer at 68 years old; Maternal aunt (60, dec.) had Lung at 55 years old F - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Maternal aunt (72, dec.) had Breast Cancer at 68 years old; Maternal aunt (69) had Kidney at 65 years old; Paternal uncle (62) had Prostate at 57 years old; Paternal uncle (66) had Prostate at 73 years old F - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Mother (63, dec.) had Breast Cancer at 58 years old; Mother (63, dec.) had Fallopian Tube Cancer at 60 years old; Sister (60) had Breast Cancer at 54 years old F - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 cancer, breast - - no family history F - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 ? - - Paternal grandmother (87) had Breast Cancer at 61 years old M - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 ? - - no family history M - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 ? - - Paternal grandmother (74, dec.) had Breast Cancer at 72 years old; Maternal uncle (76) had Prostate Cancer at 70 years old M - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 CRC - - no family history M - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2017-01-01 ? - - - M - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 ? - - Father (83, dec.) had Prostate Cancer at 75 years old F - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2016-01-01 ? - - Maternal grandmother (83, dec.) had Colorectal Cancer at 80 years old; Maternal grandfather (68, dec.) had Pancreatic Cancer at 68 years old F - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Maternal grandmother (89) had Cervical at 71 years old; Maternal grandfather (88) had Prostate at 65 years old F - - - - 0 - - 1 Jack Ji
?/. 2i c.164-108G>C r.(=) p.(=) Unknown - VUS g.6043797C>G g.6004166C>G - - PMS2_000336 - - - - Germline - - - 0 - DNA SEQ - screen date 2015-01-01 ? - - Mother (76) had Breast Cancer at 52 years old; Mother (76) had Bone Marrow at 70 years old; Father (79) had Prostate at 68 years old F - - - - 0 - - 1 Jack Ji
-/. - c.164-108G>C r.(=) p.(=) Unknown - benign g.6043797C>G g.6004166C>G PMS2(NM_000535.5):c.164-108G>C - PMS2_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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