chr3:37042482:A>G Detail (hg19) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,042,482-37,042,482
hg38 chr3:37,000,991-37,000,991 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.244A>G NP_000240.1:p.Thr82Ala
NM_001167617.1:c.-46A>G
NM_001167618.1:c.-480A>G
Summary

MGeND

Clinical significance
Variant entry
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 Likely 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 COSM5399179 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-03-02 criteria provided, multiple submitters, no conflicts Lynch syndrome germline Detail
Pathogenic Likely pathogenic 2023-05-16 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2018-06-13 reviewed by expert panel Lynch syndrome 1 germline Detail
Likely pathogenic 2016-12-27 criteria provided, single submitter not specified germline Detail
Pathogenic 2023-02-08 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Pathogenic no assertion criteria provided Carcinoma of colon unknown Detail
Pathogenic Likely pathogenic 2023-07-23 criteria provided, multiple submitters, no conflicts Colorectal cancer, hereditary nonpolyposis, type 2 germline 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.244A>G (p.Thr82Ala) AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) AND Lynch syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) AND not specified ClinVar Detail
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) AND Carcinoma of colon ClinVar Detail
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) AND Colorectal cancer, hereditary nonpolyposis, type 2 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
rs587778998 dbSNP
Genome
hg19
Position
chr3:37,042,482-37,042,482
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8650
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)
121338
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)
8.241441263248117E-6
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