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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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

21 entries on 1 page. Showing entries 1 - 21.
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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     

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Gender     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+?/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - likely pathogenic g.47690240_47690243del g.47463101_47463104del - - MSH2_000105 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
+/+ 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del - - MSH2_000105 Insight class: 5 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del - - MSH2_000105 - PubMed: Chan 1999 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del - - MSH2_000105 - PubMed: Yuen 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del - - MSH2_000105 - PubMed: Yuen 2002 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del - - MSH2_000105 - PubMed: Chan 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del - - MSH2_000105 - PubMed: Guillem 2004 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1455_1458delGAAT - MSH2_000105 - - - - Germline - 18264 - - - DNA SEQ - - HNPCC (Lynch) - - - F - Malaysia Chinese - - - - 1 Mohd Nizam Zahary
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 3 gene carriers and 1 obligate carrier developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 4 gene carriers developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 3 gene carriers and 1 obligate carrier developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 2 gene carriers developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 3 gene carriers developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 3 gene carriers developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 3 gene carriers developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 3 gene carriers developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - cancer, rectal - - - M - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 2 gene carriers developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - F - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1452_1455delAATG - MSH2_000105 Total 3 gene carriers developed cancer in family Leung et al, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, unpublished data - - Germline - - - - - DNA SEQ - - CRC - - - M - - - - - - - 1 INSiGHT group
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1457_1460del - MSH2_000105 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Thomas Hansen
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del 1457_1460del - MSH2_000105 WT MaxEntScan score: 8.85; Variant MaxEntScan score: 8.85; Difference in MaxEntScan score between variant and WT (%): 0 InSiGHT, PubMed: Rossi 2017 - - Germline - - - - - DNA ? - - ? - InSiGHT, PubMed: Rossi 2017 A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America - - Puerto Rico - - - - - 1 Mev Dominguez Valentin
+/. 9 c.1457_1460del r.(?) p.(Asn486Thrfs*10) Unknown - pathogenic g.47690240_47690243del g.47463101_47463104del - - MSH2_000105 ICCON data, Westmead, NSW - - - Germline - - - - - - - - - - - - - - - - - - - - - - -
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