chr2:47703538:C>G 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	chr2:47,703,538-47,703,538
hg38	chr2:47,476,399-47,476,399 View the variant detail on this assembly version.

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.2038C>G	NP_000242.1:p.Arg680Gly
	NM_001258281.1:c.1840C>G	NP_001245210.1:p.Arg614Gly
Ensemble	ENST00000233146.7:c.2038C>G	ENST00000233146.7:p.Arg680Gly
	ENST00000406134.5:c.2038C>G	ENST00000406134.5:p.Arg680Gly
	ENST00000543555.6:c.1840C>G	ENST00000543555.6:p.Arg614Gly
	ENST00000645506.1:c.2038C>G	ENST00000645506.1:p.Arg680Gly
	ENST00000713854.1:c.1888C>G	ENST00000713854.1:p.Arg630Gly
	ENST00000713919.1:c.1759C>G	ENST00000713919.1:p.Arg587Gly

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	Conflicting classifications of pathogenicity
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
Conflicting interpretations of pathogenicity	2022-12-21	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-12-09	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely benign	2023-12-31	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Uncertain significance	2023-12-13	criteria provided, single submitter	Lynch syndrome	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.2038C>G (p.Arg680Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly) AND Lynch syndrome	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: rs63749932 dbSNP
Genome: hg19
Position: chr2:47,703,538-47,703,538
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8648
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): 121304
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.648750247312537E-5

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