chr2:47702390:GA> 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	chr2:47,702,390-47,702,391
hg38	chr2:47,475,251-47,475,252

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.1986_1987delGA	NP_000242.1:p.Gln662HisfsTer13
	NM_001258281.1:c.1788_1789delGA	NP_001245210.1:p.Gln596HisfsTer13
Ensemble	ENST00000233146.7:c.1986_1987delGA	ENST00000233146.7:p.Gln662HisfsTer13
	ENST00000406134.5:c.1986_1987delGA	ENST00000406134.5:p.Gln662HisfsTer13
	ENST00000543555.6:c.1788_1789delGA	ENST00000543555.6:p.Gln596HisfsTer13
	ENST00000645506.1:c.1986_1987delGA	ENST00000645506.1:p.Gln662HisfsTer13
	ENST00000713854.1:c.1836_1837delGA	ENST00000713854.1:p.Gln612HisfsTer13
	ENST00000713919.1:c.1707_1708delGA	ENST00000713919.1:p.Gln569HisfsTer13

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic		no assertion criteria provided	not provided	unknown	Detail
Pathogenic	2022-07-25	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.332	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs) AND Lynch syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs) AND Hereditary cancer-predisposing syndrome	ClinVar	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: rs587779122 dbSNP
Genome: hg19
Position: chr2:47,702,390-47,702,391
Variant Type: snv
Reference Allele: GA
Alternative Allele: -

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