chr2:47475130:C>T Detail (hg38) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,702,269-47,702,269 View the variant detail on this assembly version.
hg38 chr2:47,475,130-47,475,130

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.1865C>T NP_000242.1:p.Pro622Leu
NM_001258281.1:c.1667C>T NP_001245210.1:p.Pro556Leu
Ensemble ENST00000233146.7:c.1865C>T ENST00000233146.7:p.Pro622Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 10
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2022/02/15 lynch syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/11/30 ascending colon germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2022/02/15 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/11/30 bladder, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/11/30 descending colon germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/11/30 sigmoid colon germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/11/30 malignant neoplasm of rectum germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2021/11/30 malignant neoplasm of ureter germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic colorectal cancer, hereditary nonpolyposis germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
Pathogenic colorectal cancer, hereditary nonpolyposis germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1993-12-17 no assertion criteria provided Lynch syndrome 1 germline Detail
Pathogenic 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Pathogenic 2021-02-04 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-05-19 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Pathogenic 2022-11-28 criteria provided, single submitter not provided 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
0.320 Colorectal cancer, hereditary nonpolyposis, type 1 Functional analysis of HNPCC-related missense mutations in MSH2. UNIPROT 18822302 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) AND Lynch syndrome 1 ClinVar Detail
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) AND Lynch syndrome ClinVar Detail
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) AND not provided ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Functional analysis of HNPCC-related missense mutations in MSH2. 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
rs28929483 dbSNP
Genome
hg38
Position
chr2:47,475,130-47,475,130
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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