chr2:47635629:GAAGTT> 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	chr2:47,635,629-47,635,634
hg38	chr2:47,408,490-47,408,495

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.301_306delGAAGTT	NP_000242.1:p.Glu101_Val102del
	NM_001258281.1:c.103_108delGAAGTT	NP_001245210.1:p.Glu35_Val36del
Ensemble	ENST00000233146.7:c.301_306delGAAGTT	ENST00000233146.7:p.Glu101_Val102del
	ENST00000406134.5:c.301_306delGAAGTT	ENST00000406134.5:p.Glu101_Val102del
	ENST00000543555.6:c.103_108delGAAGTT	ENST00000543555.6:p.Glu35_Val36del
	ENST00000645506.1:c.301_306delGAAGTT	ENST00000645506.1:p.Glu101_Val102del
	ENST00000713854.1:c.301_306delGAAGTT	ENST00000713854.1:p.Glu101_Val102del
	ENST00000713860.1:c.301_306delGAAGTT	ENST00000713860.1:p.Glu101_Val102del
	ENST00000713861.1:c.301_306delGAAGTT	ENST00000713861.1:p.Glu101_Val102del
	ENST00000713919.1:c.301_306delGAAGTT	ENST00000713919.1:p.Glu101_Val102del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

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
Likely pathogenic	2019-06-21	reviewed by expert panel	Lynch syndrome	germline	Detail
Likely pathogenic	2023-03-30	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2016-02-22	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2022-01-27	criteria provided, multiple submitters, no conflicts	Lynch syndrome 1	unknown	Detail
Pathogenic	2023-08-07	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	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.301_306del (p.Glu101_Val102del) AND Lynch syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) AND Lynch syndrome 1	ClinVar	Detail
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) AND Hereditary nonpolyposis colorectal neoplasms	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: rs587779157 dbSNP
Genome: hg19
Position: chr2:47,635,629-47,635,634
Variant Type: snv
Reference Allele: GAAGTT
Alternative Allele: -

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