chr2:47416429:G>C 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>C	NP_000242.1:p.Arg359Thr
	NM_001258281.1:c.878G>C	NP_001245210.1:p.Arg293Thr
Ensemble	ENST00000233146.7:c.1076G>C	ENST00000233146.7:p.Arg359Thr
	ENST00000406134.5:c.1076G>C	ENST00000406134.5:p.Arg359Thr
	ENST00000543555.6:c.878G>C	ENST00000543555.6:p.Arg293Thr
	ENST00000645506.1:c.1076G>C	ENST00000645506.1:p.Arg359Thr
	ENST00000713854.1:c.926G>C	ENST00000713854.1:p.Arg309Thr
	ENST00000713860.1:c.1076G>C	ENST00000713860.1:p.Arg359Thr
	ENST00000713861.1:c.1076G>C	ENST00000713861.1:p.Arg359Thr
	ENST00000713919.1:c.797G>C	ENST00000713919.1:p.Arg266Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
Pathogenic	2021-11-08	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-21	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Uncertain significance	2019-07-05	criteria provided, single submitter	not specified	germline	Detail
Likely pathogenic	2019-07-01	no assertion criteria provided	Lynch-like syndrome	somatic	Detail
Likely pathogenic	2023-07-31	criteria provided, multiple submitters, no conflicts	Lynch syndrome 1	unknown	Detail
Uncertain significance	2022-10-22	criteria provided, single submitter	not provided	unknown	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>C (p.Arg359Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) AND not specified	ClinVar	Detail
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) AND Lynch-like syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) AND Lynch syndrome 1	ClinVar	Detail
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) AND not provided	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: C

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