chr2:47698203:T>C Detail (hg19) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,698,203-47,698,203
hg38 chr2:47,471,064-47,471,064 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.1759+2T>C
NM_001258281.1:c.1561+2T>C
Ensemble ENST00000233146.7:c.1759+2T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
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 2019-06-21 reviewed by expert panel Lynch syndrome germline unknown Detail
Likely pathogenic 2018-10-16 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Likely pathogenic 2018-05-25 criteria provided, single submitter Hereditary cancer-predisposing 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

DescrptionSourceLinks
NM_000251.3(MSH2):c.1759+2T>C AND Lynch syndrome ClinVar Detail
NM_000251.3(MSH2):c.1759+2T>C AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000251.3(MSH2):c.1759+2T>C AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267607976 dbSNP
Genome
hg19
Position
chr2:47,698,203-47,698,203
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser