chr3:37028833:C>T Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,070,324-37,070,324 View the variant detail on this assembly version.
hg38 chr3:37,028,833-37,028,833

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.1459C>T NP_000240.1:p.Arg487Ter
NM_001167617.1:c.1165C>T NP_001161089.1:p.Arg389Ter
NM_001167618.1:c.736C>T NP_001161090.1:p.Arg246Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 120436 OMIM
HGNC 7127 HGNC
Ensembl ENSG00000076242 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6713226 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Lynch syndrome germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
Pathogenic gastric cancer germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Pathogenic 2023-01-09 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-10-09 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-12-26 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Pathogenic 2023-07-20 criteria provided, multiple submitters, no conflicts Colorectal cancer, hereditary nonpolyposis, type 2 germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome,Mismatch repair cancer syndrome 1 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome,Mismatch repair cancer syndrome 1 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome,Mismatch repair cancer syndrome 1 unknown Detail
Pathogenic no assertion criteria provided Lynch syndrome 1 germline Detail
Pathogenic 2019-07-01 no assertion criteria provided Lynch-like syndrome somatic Detail
Pathogenic no assertion criteria provided Carcinoma of colon unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.329 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND multiple conditions ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND multiple conditions ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND multiple conditions ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND Lynch syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND Lynch-like syndrome ClinVar Detail
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) AND Carcinoma of colon 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
rs63749795 dbSNP
Genome
hg38
Position
chr3:37,028,833-37,028,833
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser