chr2:47709930:A> 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	chr2:47,709,930-47,709,930
hg38	chr2:47,482,791-47,482,791

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.2647delA	NP_000242.1:p.Ile883LeufsTer9
	NM_001258281.1:c.2449delA	NP_001245210.1:p.Ile817LeufsTer9
Ensemble	ENST00000233146.7:c.2647delA	ENST00000233146.7:p.Ile883LeufsTer9
	ENST00000406134.5:c.2634+1920delA
	ENST00000543555.6:c.2449delA	ENST00000543555.6:p.Ile817LeufsTer9
	ENST00000645506.1:c.2634+1920delA
	ENST00000713854.1:c.2497delA	ENST00000713854.1:p.Ile833LeufsTer9
	ENST00000713919.1:c.2368delA	ENST00000713919.1:p.Ile790LeufsTer9

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	COSM6943476	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-06-13	reviewed by expert panel	Lynch syndrome 1	germline unknown	Detail
Pathogenic	2022-01-24	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-04-23	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-05	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.2647del (p.Ile883fs) AND Lynch syndrome 1	ClinVar	Detail
NM_000251.3(MSH2):c.2647del (p.Ile883fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.2647del (p.Ile883fs) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.2647del (p.Ile883fs) 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: rs63750084 dbSNP
Genome: hg19
Position: chr2:47,709,930-47,709,930
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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