Full data view for gene MSH2


MSH2 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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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_000251.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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-/. - c.1511-9A>T r.(=) p.(=) Unknown - benign g.47693788A>T g.47466649A>T MSH2(NM_000251.1):c.1511-9A>, MSH2(NM_000251.2):c.1511-9A>T, MSH2(NM_000251.3):c.1511-9A>T - MSH2_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1511-9A>T r.(=) p.(=) Unknown - benign g.47693788A>T g.47466649A>T MSH2(NM_000251.1):c.1511-9A>, MSH2(NM_000251.2):c.1511-9A>T, MSH2(NM_000251.3):c.1511-9A>T - MSH2_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1511-9A>T r.(=) p.(=) Unknown - benign g.47693788A>T g.47466649A>T MSH2(NM_000251.1):c.1511-9A>, MSH2(NM_000251.2):c.1511-9A>T, MSH2(NM_000251.3):c.1511-9A>T - MSH2_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1511-9A>T r.(=) p.(=) Unknown - benign g.47693788A>T g.47466649A>T MSH2(NM_000251.1):c.1511-9A>, MSH2(NM_000251.2):c.1511-9A>T, MSH2(NM_000251.3):c.1511-9A>T - MSH2_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1511-9A>T r.(=) p.(=) Unknown - benign g.47693788A>T g.47466649A>T MSH2(NM_000251.1):c.1511-9A>, MSH2(NM_000251.2):c.1511-9A>T, MSH2(NM_000251.3):c.1511-9A>T - MSH2_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9i c.1511-9A>T r.(?) p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 9i c.1511-9A>T r.spl? p.(=) Unknown InSiGHT benign g.47693788A>T g.47466649A>T - - MSH2_000422 Insight class: 1 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA ? - - ? - - - - - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - c.211+9C>G (hom) & c.1511-9A>T and c.1661+12G>A (het).MSH2 Seq &MLPA reported 22/04/09c.540T>C, c.642C>T, c.3438+14 MSH6 (all het) - - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - PHx uterine CA. IHC absent MSH2/MSH6.MSH2 polys: c.211+9C>G (hom), c.1511-9A>T (hom), c.1661-12T>C (hom). EPCAM also neg on MLPA. Reported 3/12/10. - - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - Uterine Ca @50. IHC absent for MSH2/MSH6.MSH2 polys: c.1661-12T>C (het). C.2006-6T>C.Reported 3/12/10EPCAM also normal on MLPA. - - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 Endometrial Ca. IHC absent MSH6. Austin Clinic.2 het seq variants: c.540T>C, c.642C>TAlso neg for EPCAM on MLPA kit P072-B1MSH2 seq + MLPA requested and reported 04/05/12. Seq variants: c.211+9C>Ghom, 1511-19A>Thet,1661+12G>Ahet. Desiree du Sart - - Germline - - - - - DNA ? - - cancer, endometrial - - - F - - - - - - - 1 INSiGHT group
-/. 9i c.1511-9A>T r.spl? p.(=) Parent #1 - benign g.47693788A>T g.47466649A>T - - MSH2_000422 Functional analysis using the pCAS ex vivo splicing assay demonstrated this variant had no effect. PubMed: Tournier 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Parent #1 - VUS g.47693788A>T g.47466649A>T g.63525, it is g.63526 (g.63525 is an G). - MSH2_000422 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Parent #2 - VUS g.47693788A>T g.47466649A>T g.63525, it is g.63526 (g.63525 is an G). - MSH2_000422 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Parent #1 - VUS g.47693788A>T g.47466649A>T Authors also describe this as rs12998837. - MSH2_000422 - PubMed: Gundry 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Parent #2 - VUS g.47693788A>T g.47466649A>T Authors also describe this as rs12998837. - MSH2_000422 - PubMed: Gundry 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Parent #1 - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Parent #2 - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
-/. 9i c.1511-9A>T r.spl? p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 9i c.1511-9A>T r.spl? p.(=) Parent #1 - VUS g.47693788A>T g.47466649A>T t -> a at 1511-9 - MSH2_000422 - PubMed: Borresen 1995 - - Germline - 0.2 - - - DNA SEQ - - ? - - - ? - Norway - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Parent #1 - VUS g.47693788A>T g.47466649A>T T -> a at 1511-9 - MSH2_000422 - Caldes Trinidad (unpublished) - - Germline - - - - - DNA SEQ - - ? - - - ? - Spain - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T T>A. - MSH2_000422 - PubMed: Apessos 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T IVS10-9T>A. - MSH2_000422 - PubMed: Cunningham 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T 1510-9T>A - MSH2_000422 - PubMed: Jung 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T 1387-9T>A - MSH2_000422 - PubMed: Woods 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T g.63525, it is g.63526 (g.63525 is an G). - MSH2_000422 - PubMed: Rubio-Del-Campo 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T Authors also describe this as rs12998837. - MSH2_000422 - PubMed: Gundry 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 Authors describe this variant as not leading to an increased susceptibility to sporadic colorectal cancer in the Danish population. PubMed: Christensen 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - PubMed: Bujalkova 2008 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - rs12998837 Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T 1511-9T>A. - MSH2_000422 - PubMed: Farrington 1998 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T T>A. - MSH2_000422 - PubMed: Heinimann 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T T>A. - MSH2_000422 - PubMed: Desai 2000 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T T>A. - MSH2_000422 - PubMed: Kurzawski 2002, PubMed: Kurzawski 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T T>A. - MSH2_000422 - PubMed: Baldinu 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T 1579T>A. - MSH2_000422 - PubMed: Velasco 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T 1510-9T>A. - MSH2_000422 - PubMed: Holinski-Feder 2001 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T 1511-9A>T - MSH2_000422 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T 1511-9A>T - MSH2_000422 - Kristina Lagerstedt Robinson - - Germline - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T MSH2 Seq variants: 1511-9A>T and 1661+12G>A (het). - MSH2_000422 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T Phx & FHx. 211+9C>G, 1511-9A>T and 1661+12G>A (all hom) - MSH2_000422 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T Sebacous Adenoma. 211+9C>G, 1511-9A>T and 1661+12G>A (het). - MSH2_000422 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T Uterine tumour. IHC absent MSH2MSH2 het seq variants: 211+9C>G, 1511-9A>T, 1661+12G>AEPCAM MPLA neg - MSH2_000422 - Desiree du Sart - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 INSiGHT group
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T IVS10-9T>A. - MSH2_000422 - PubMed: Rajkumar 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - PubMed: Hegde 2005 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - Mother (74, dec.) had Breast Cancer at 65 years old; Mother (74, dec.) had Colorectal Cancer at 72 years old; Mother (74, dec.) had Primary Peritoneal Cancer at 71 years old; Sister (50, dec.) had Breast Cancer at 38 years old; Sister (66) had Kidney Cancer at 65 years old; Sister (66) had Thymoma at 65 years old; Sister (66) had Ovarian Cancer at 65 years old; Maternal grandfather (71, dec.) had Gastric Cancer at 70 years old; Paternal grandfather (83, dec.) had Breast Cancer at 65 years old; Brother (71) had Colorectal Cancer at 57 years old; Brother (71) had Bladder at 68 years old; Brother (71) had Prostate Cancer at 50 years old; Sister (66) has a mutation in KRAS F - - - - - - - 1 Jack Ji
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA SEQ - screen date 2017-01-01 ? - - no family history M - - - - - - - 1 Jack Ji
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - 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
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Maternal grandmother (90 or older, dec.) had Colorectal Cancer at 85 years old; Paternal grandfather (87) had Lymphoma at 80 years old M - - - - - - - 1 Jack Ji
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 ? - - Father (83, dec.) had Prostate Cancer at 75 years old F - - - - - - - 1 Jack Ji
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA SEQ - screen date 2016-01-01 CRC - - Brother (58) had Colorectal Cancer at 35 years old; Brother (65) had Colorectal Cancer at 54 years old; Brother (67, dec.) had Colorectal Cancer at 65 years old; Father (55, dec.) had Colorectal Cancer at 54 years old M - - - - - - - 1 Jack Ji
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - 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
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - 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
?/. 9i c.1511-9A>T r.spl? p.(=) Unknown - VUS g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - 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
-/. - c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 Control frequency on 160 Italian control chr: 0.07333 PubMed: Tricarico 2017 - - Germline - 0.07333 - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T 1511-9A>T+2006-6T>C + 2081T>C - MSH2_000422 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T 1511-9A>T +2006-6T>C + 2006G>T - MSH2_000422 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 - - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 Multiple adenomas - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - PubMed: Tricarico 2017 - - Germline - - - - - DNA ? - - HNPCC (Lynch) - PubMed: Tricarico 2017 Multiple adenomas - - Italy - - - - - 1 Maurizio Genuardi
-/. - c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
-/. - c.1511-9A>T r.(?) p.(=) Unknown - benign g.47693788A>T g.47466649A>T - - MSH2_000422 - - - - Germline - - - - - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - - - - 1 Carlos Vaccaro
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