chr3:37017521:C>G Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,059,012-37,059,012 View the variant detail on this assembly version.
hg38 chr3:37,017,521-37,017,521

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.806C>G NP_000240.1:p.Ser269Ter
NM_001167617.1:c.512C>G NP_001161089.1:p.Ser171Ter
NM_001167618.1:c.83C>G NP_001161090.1:p.Ser28Ter
Summary

MGeND

Clinical significance
Variant entry
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-12-01 no assertion criteria provided Colorectal cancer, hereditary nonpolyposis, type 2 germline Detail
Pathogenic 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Pathogenic 2018-02-10 no assertion criteria provided germline Detail
Pathogenic 2018-05-15 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Pathogenic no assertion criteria provided not provided germline Detail
Pathogenic 2021-07-13 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 Hereditary Non-Polyposis Colon Cancer Type 2 NA CLINVAR Detail
0.329 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Colon cancer ClinVar Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) AND Hereditary cancer-predisposing syndrome 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
rs63750691 dbSNP
Genome
hg38
Position
chr3:37,017,521-37,017,521
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser