chr3:37053589:C>T Detail (hg19) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,053,589-37,053,589
hg38 chr3:37,012,098-37,012,098 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001167617.1:c.382C>T NP_001161089.1:p.Arg128Ter
NM_001258271.1:c.676C>T NP_001245200.1:p.Arg226Ter
NM_001258274.1:c.-48C>T
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 COSM27170 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 appendix not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-03-16 criteria provided, multiple submitters, no conflicts Colorectal cancer, hereditary nonpolyposis, type 2 unknown germline Detail
Pathogenic 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-04-11 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-31 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline 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 2001-05-01 no assertion criteria provided Mismatch repair cancer syndrome 1 germline Detail
Pathogenic 2022-06-21 criteria provided, single submitter Muir-Torré syndrome germline Detail
Pathogenic 2021-09-15 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
Lynch syndrome E Predisposing Supports Uncertain Significance Somatic 2 25111426 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.492 Turcot syndrome (disorder) NA CLINVAR Detail
0.440 Hereditary Non-Polyposis Colon Cancer Type 2 NA CLINVAR Detail
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.329 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
This variant, identified in a case of microsatellite-unstable colorectal cancer was confirmed to be ... CIViC Evidence Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Lynch syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Lynch-like syndrome ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Mismatch repair cancer syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Muir-Torré syndrome ClinVar Detail
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Breast and/or ovarian cancer ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs63751615 dbSNP
Genome
hg19
Position
chr3:37,053,589-37,053,589
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120876
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.272940865018697E-6
Variant (CIViC) (CIViC Variant)
R226*
Transcript 1 (CIViC Variant)
ENST00000231790.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/754
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