chr2:47475049:T>G Detail (hg38) (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	chr2:47,702,188-47,702,188 View the variant detail on this assembly version.
hg38	chr2:47,475,049-47,475,049

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.1784T>G	NP_000242.1:p.Leu595Arg
	NM_001258281.1:c.1586T>G	NP_001245210.1:p.Leu529Arg
Ensemble	ENST00000233146.7:c.1784T>G	ENST00000233146.7:p.Leu595Arg
	ENST00000406134.5:c.1784T>G	ENST00000406134.5:p.Leu595Arg
	ENST00000543555.6:c.1586T>G	ENST00000543555.6:p.Leu529Arg
	ENST00000645506.1:c.1784T>G	ENST00000645506.1:p.Leu595Arg
	ENST00000713854.1:c.1634T>G	ENST00000713854.1:p.Leu545Arg
	ENST00000713919.1:c.1505T>G	ENST00000713919.1:p.Leu502Arg

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	2021-10-29	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-02-18	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Likely pathogenic	2020-07-30	no assertion criteria provided	Lynch syndrome 1	maternal	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg) AND Lynch syndrome 1	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: rs786201590 dbSNP
Genome: hg38
Position: chr2:47,475,049-47,475,049
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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