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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

81 entries on 1 page. Showing entries 1 - 81.
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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     
-/- 6i c.705+17A>G r.(?) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 Insight class: 1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C PMS2(NM_000535.5):c.705+17A>G, PMS2(NM_000535.7):c.705+17A>G - PMS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C PMS2(NM_000535.5):c.705+17A>G, PMS2(NM_000535.7):c.705+17A>G - PMS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C PMS2(NM_000535.5):c.705+17A>G, PMS2(NM_000535.7):c.705+17A>G - PMS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C PMS2(NM_000535.5):c.705+17A>G, PMS2(NM_000535.7):c.705+17A>G - PMS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C PMS2(NM_000535.5):c.705+17A>G, PMS2(NM_000535.7):c.705+17A>G - PMS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.705+17A>G r.(?) p.(=) Both (homozygous) - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Both (homozygous) - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Both (homozygous) - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Both (homozygous) - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Both (homozygous) - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Both (homozygous) - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 6i c.705+17A>G r.(?) p.(=) Parent #1 - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 6i c.705+17A>G r.(=) p.(=) Unknown - VUS g.6038722T>C g.5999091T>C IVS6 537+17A>G - PMS2_000025 - PubMed: Hendriks 2006 - - Germline - - - - - DNA SEQ - - CRC - - - ? - - - - - - - 1 Juul Wijnen
?/. 6i c.705+17A>G r.(=) p.(=) Unknown - VUS g.6038722T>C g.5999091T>C - - PMS2_000025 - PubMed: Thompson 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal aunt (62, dec.) had Breast Cancer at 60 years old; Paternal aunt (50, dec.) had Breast Cancer at 50 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Paternal grandmother (60, dec.) had Breast Cancer at 55 years old; Paternal aunt (67) had Ovarian Cancer at 61 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Maternal grandmother (66, dec.) had Breast Cancer at 63 years old; Maternal aunt (75) had Breast Cancer at 62 years old; Paternal aunt (78) had Breast Cancer at 70 years old; Father (70, dec.) had Lung Cancer at 70 years old; Maternal uncle (67, dec.) had Colon Cancer at 55 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Mother (59) had Thyroid at 56 years old; Maternal grandmother (56, dec.) had Breast Cancer at 52 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - 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 - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Mother (60) had Breast Cancer at 48 years old M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 cancer, breast - - no family history F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Father (79) had Pancreatic Cancer at 75 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Maternal grandmother (80, dec.) had Breast Cancer at 78 years old; Paternal aunt (40, dec.) had Breast Cancer at 38 years old; Paternal aunt (82, dec.) had Breast Cancer at 80 years old; Maternal grandfather (80, dec.) had Gastric Cancer at 78 years old M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - 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 - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal aunt (48, dec.) had Breast Cancer at 42 years old; Maternal aunt (48, dec.) had Ovarian Cancer at 42 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal aunt (53, dec.) had Breast Cancer at 50 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal aunt (49) had Pre Cancerous Stages Of Breast Only at 32 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Paternal aunt (66) had Breast Cancer at 35 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Father (71, dec.) had Prostate Cancer at 62 years old;Paternal uncle (70, dec.) had Prostate Cancer at 64 years old; Paternal uncle (72, dec.) had Prostate Cancer at 62 years old; Paternal uncle (73, dec.) had Prostate Cancer at 64 years old M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Paternal grandmother (87) had Breast Cancer at 61 years old M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Sister (15, dec.) had Leukemia at 14 years old; Maternal grandfather (60, dec.) had Bone Cancer at 59 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - 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 - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 cancer, breast - - Mother (58, dec.) had Ovarian Cancer at 58 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Mother (64) had Breast Cancer at 30 years old; Maternal grandfather (63, dec.) had Lung at 61 years old M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 cancer, breast - - Mother (50, dec.) had Breast Cancer F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 CRC - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 cancer, breast - - Maternal aunt (71) had Lymphoma at 70 years old; Maternal aunt (71) had Colorectal Cancer at 70 years old; Sister (31) had Breast Cancer at 30 years old; Maternal grandmother (90 or older, dec.) had Colorectal Cancer at 80 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - - F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Mother (66) had Breast Cancer at 30 years old; Maternal aunt (58, dec.) had Colon at 56 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Paternal aunt (66) had Colorectal Cancer at 56 years old; Maternal aunt (81) had Breast Cancer at 63 years old; Maternal grandmother (45, dec.) had Ovarian Cancer at 43 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Mother (90 or older, dec.) had Breast Cancer at 80 years old; Father (75, dec.) had Liver at 70 years old M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Father (76, dec.) had Liver at 65 years old M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 CRC - - Maternal grandmother (80, dec.) had Breast Cancer at 78 years old; Maternal grandmother (80, dec.) had Colorectal Cancer at 78 years old; Maternal uncle (57) had Prostate Cancer at 55 years old; Maternal uncle (48, dec.) had Colorectal Cancer at 45 years old; Father (62, dec.) had Prostate Cancer at 62 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - no family history F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - 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 - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Mother (69) had Thyroid Cancer at 55 years old; Paternal uncle (55, dec.) had Unknown at 50 years old; Paternal uncle (59, dec.) had Unknown at 55 years old; Father (69, dec.) had Unknown at 62 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 cancer, breast - - Maternal aunt (70, dec.) had Breast Cancer at 50 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 cancer, breast - - Sister (42, dec.) had Breast Cancer at 42 years old; Maternal aunt (90 or older, dec.) had Breast Cancer at 55 years old; Maternal grandfather (86, dec.) had Lung Cancer at 70 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal aunt (63) had Breast Cancer at 40 years old; Maternal grandmother (89) had Breast Cancer at 80 years old; Father (50, dec.) had Brain Cancer at 49 years old M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - 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 - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Maternal grandmother (74, dec.) had Breast Cancer at 67 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 cancer, breast - - Mother (1) had Breast Cancer at 28 years old; Sister (41) had Breast Cancer at 40 years old F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - Mother (81, dec.) had Pancreatic Cancer at 81 years old; Sister (57) had Breast Cancer at 49 years old; Brother (60) had Skin at 54 years old; Sister (57) has a mutation in of undetermined signficance F - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2015-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
-/. 6i c.705+17A>G r.(=) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 cancer, skin - - Mother (84, dec.) had All Over Abdomen When They Found It at 84 years old; Maternal grandmother (40, dec.) had Stomach ? at 40 years old; Paternal grandmother (42, dec.) had Breast Cancer at 27 years old; Sister (59) had Colorectal Cancer at 55 years old; Maternal aunt (78, dec.) had Breast Cancer at 50 years old; Maternal aunt (78, dec.) had Colorectal Cancer at 60 years old; Paternal aunt (78, dec.) had Breast Cancer at 48 years old; Paternal uncle (70, dec.) had Lung at 68 years old; Paternal uncle (65, dec.) had Kidney Cancer at 65 years old; Paternal uncle (65, dec.) had Liver at 65 years old; Father (82, dec.) had Colorectal Cancer at 80 years old; Maternal grandfather (82, dec.) had Bone Spine? at 78 years old; Paternal uncle (73, dec.) had Colorectal Cancer at 50 years old F - - - - - - - 1 Jack Ji
-/. - c.705+17A>G r.(?) p.(=) Both (homozygous) - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.705+17A>G r.(?) p.(=) Unknown - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.705+17A>G r.(?) p.(=) Both (homozygous) - benign g.6038722T>C g.5999091T>C - - PMS2_000025 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
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