chr2:47466718: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	chr2:47,693,857-47,693,857 View the variant detail on this assembly version.
hg38	chr2:47,466,718-47,466,718

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.1571G>C	NP_000242.1:p.Arg524Pro
	NM_001258281.1:c.1373G>C	NP_001245210.1:p.Arg458Pro
Ensemble	ENST00000233146.7:c.1571G>C	ENST00000233146.7:p.Arg524Pro
	ENST00000406134.5:c.1571G>C	ENST00000406134.5:p.Arg524Pro
	ENST00000543555.6:c.1373G>C	ENST00000543555.6:p.Arg458Pro
	ENST00000645506.1:c.1571G>C	ENST00000645506.1:p.Arg524Pro
	ENST00000713854.1:c.1421G>C	ENST00000713854.1:p.Arg474Pro
	ENST00000713919.1:c.1292G>C	ENST00000713919.1:p.Arg431Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2023-08-02	criteria provided, single submitter	Lynch syndrome 1	germline unknown	Detail
Likely pathogenic	2019-06-21	reviewed by expert panel	Lynch syndrome	germline	Detail
Likely pathogenic	2022-08-22	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2021-03-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-12-12	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Likely pathogenic	2020-07-29	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
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.121	ovarian neoplasm	We have identified the source of the genetic instability in one ovarian tumor as...	BeFree	7937795	Detail
0.332	Hereditary Nonpolyposis Colorectal Cancer	We have identified the source of the genetic instability in one ovarian tumor as...	BeFree	7937795	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) AND Lynch syndrome 1	ClinVar	Detail
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) AND Lynch syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) AND Hereditary nonpolyposis colon cancer	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R...	DisGeNET	Detail
We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R...	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: rs63751207 dbSNP
Genome: hg38
Position: chr2:47,466,718-47,466,718
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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