chr2:47416429:G>A 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	chr2:47,643,568-47,643,568 View the variant detail on this assembly version.
hg38	chr2:47,416,429-47,416,429

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.1076G>A	NP_000242.1:p.Arg359Lys
	NM_001258281.1:c.878G>A	NP_001245210.1:p.Arg293Lys
Ensemble	ENST00000233146.7:c.1076G>A	ENST00000233146.7:p.Arg359Lys
	ENST00000406134.5:c.1076G>A	ENST00000406134.5:p.Arg359Lys
	ENST00000543555.6:c.878G>A	ENST00000543555.6:p.Arg293Lys
	ENST00000645506.1:c.1076G>A	ENST00000645506.1:p.Arg359Lys
	ENST00000713854.1:c.926G>A	ENST00000713854.1:p.Arg309Lys
	ENST00000713860.1:c.1076G>A	ENST00000713860.1:p.Arg359Lys
	ENST00000713861.1:c.1076G>A	ENST00000713861.1:p.Arg359Lys
	ENST00000713919.1:c.797G>A	ENST00000713919.1:p.Arg266Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2023-10-26	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-12-15	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	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.1076G>A (p.Arg359Lys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1076G>A (p.Arg359Lys) AND Hereditary nonpolyposis colorectal neoplasms	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: rs63751604 dbSNP
Genome: hg38
Position: chr2:47,416,429-47,416,429
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121330
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.241984669908513E-6

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