chr3:37042544:G>A Detail (hg19) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,042,544-37,042,544
hg38 chr3:37,001,053-37,001,053 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001167618.1:c.-418G>A
NM_001258273.1:c.-418G>A
NM_000249.3:c.306G>A NP_000240.1:p.Glu102=
Summary

MGeND

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

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv12068058 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-01-29 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2023-06-05 criteria provided, single submitter not provided germline Detail
Uncertain significance 2018-06-13 reviewed by expert panel Lynch syndrome 1 germline Detail
Likely pathogenic 2023-07-16 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Uncertain significance 2021-08-02 criteria provided, single submitter not specified germline Detail
Pathogenic 2023-10-02 criteria provided, single submitter Lynch syndrome germline 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.306G>A (p.Glu102=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.306G>A (p.Glu102=) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.306G>A (p.Glu102=) AND Lynch syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.306G>A (p.Glu102=) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.306G>A (p.Glu102=) AND not specified ClinVar Detail
NM_000249.4(MLH1):c.306G>A (p.Glu102=) AND Lynch 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
rs63751665 dbSNP
Genome
hg19
Position
chr3:37,042,544-37,042,544
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs63751665
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8636
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)
121086
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6517186132170523E-5
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