chr2:47657030:AG> Detail (hg19) (MSH2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr2:47,657,030-47,657,031
hg38	chr2:47,429,891-47,429,892

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.1226_1227delAG	NP_000242.1:p.Gln409ArgfsTer7
	NM_001258281.1:c.1028_1029delAG	NP_001245210.1:p.Gln343ArgfsTer7
Ensemble	ENST00000233146.7:c.1226_1227delAG	ENST00000233146.7:p.Gln409ArgfsTer7
	ENST00000406134.5:c.1226_1227delAG	ENST00000406134.5:p.Gln409ArgfsTer7
	ENST00000543555.6:c.1028_1029delAG	ENST00000543555.6:p.Gln343ArgfsTer7
	ENST00000645506.1:c.1226_1227delAG	ENST00000645506.1:p.Gln409ArgfsTer7
	ENST00000713854.1:c.1076_1077delAG	ENST00000713854.1:p.Gln359ArgfsTer7
	ENST00000713860.1:c.1226_1227delAG	ENST00000713860.1:p.Gln409ArgfsTer7
	ENST00000713861.1:c.1226_1227delAG	ENST00000713861.1:p.Gln409ArgfsTer7
	ENST00000713919.1:c.947_948delAG	ENST00000713919.1:p.Gln316ArgfsTer7

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

MSH2

Type	Database	ID	Link
Gene	MIM	609309	OMIM
	HGNC	7325	HGNC
	Ensembl	ENSG00000095002	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		colorectal cancer	germline	MGS000060 (TMGS000107)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline unknown	Detail
Pathogenic	2023-09-06	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-08-02	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-03-26	criteria provided, multiple submitters, no conflicts	Lynch syndrome 1	germline unknown	Detail
Pathogenic	2024-01-31	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2021-08-09	no assertion criteria provided	ovarian cyst	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.332	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) AND Lynch syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) AND Lynch syndrome 1	ClinVar	Detail
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) AND Ovarian cyst	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs63750086 dbSNP
Genome: hg19
Position: chr2:47,657,030-47,657,031
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

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