chr2:47475180:C>T 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	chr2:47,702,319-47,702,319 View the variant detail on this assembly version.
hg38	chr2:47,475,180-47,475,180

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.1915C>T	NP_000242.1:p.His639Tyr
	NM_001258281.1:c.1717C>T	NP_001245210.1:p.His573Tyr
Ensemble	ENST00000233146.7:c.1915C>T	ENST00000233146.7:p.His639Tyr
	ENST00000406134.5:c.1915C>T	ENST00000406134.5:p.His639Tyr
	ENST00000543555.6:c.1717C>T	ENST00000543555.6:p.His573Tyr
	ENST00000645506.1:c.1915C>T	ENST00000645506.1:p.His639Tyr
	ENST00000713854.1:c.1765C>T	ENST00000713854.1:p.His589Tyr
	ENST00000713919.1:c.1636C>T	ENST00000713919.1:p.His546Tyr

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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, hereditary nonpolyposis	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University
Pathogenic		colorectal cancer, hereditary nonpolyposis	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-08-04	criteria provided, single submitter	Lynch syndrome 1	unknown	Detail
Pathogenic	2013-09-05	reviewed by expert panel	Lynch syndrome	germline	Detail
Pathogenic	2020-06-01	criteria provided, single submitter	not provided	germline unknown	Detail
Pathogenic	2019-01-09	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2022-06-09	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2024-01-12	criteria provided, single submitter	Hereditary nonpolyposis colon cancer	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.332	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail
0.320	Colorectal cancer, hereditary nonpolyposis, type 1	NA	CLINVAR		Detail
0.320	Colorectal cancer, hereditary nonpolyposis, type 1	Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-ye...	UNIPROT	11555625	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) AND Lynch syndrome 1	ClinVar	Detail
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) AND Lynch syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) AND Hereditary nonpolyposis colon cancer	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in...	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: rs28929484 dbSNP
Genome: hg38
Position: chr2:47,475,180-47,475,180
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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