chr3:36993584:G>A Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,035,075-37,035,075 View the variant detail on this assembly version.
hg38 chr3:36,993,584-36,993,584

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.37G>A NP_000240.1:p.Glu13Lys
NM_001258271.1:c.37G>A NP_001245200.1:p.Glu13Lys
NM_001258273.1:c.-596G>A
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 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
COSMIC COSM420033 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2014-10-30 no assertion criteria provided Lynch syndrome 1 germline Detail
Uncertain significance 2024-01-31 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2022-07-25 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Uncertain significance 2023-09-30 criteria provided, multiple submitters, no conflicts Colorectal cancer, hereditary nonpolyposis, type 2 unknown Detail
Uncertain significance no assertion criteria provided unknown Detail
Uncertain significance 2022-12-21 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-01-18 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Uncertain significance 2022-09-02 no assertion criteria provided not specified germline Detail
Uncertain significance 2023-12-13 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.37G>A (p.Glu13Lys) AND Lynch syndrome 1 ClinVar Detail
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar Detail
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) AND Malignant tumor of breast ClinVar Detail
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) AND Breast and/or ovarian cancer ClinVar Detail
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) AND not specified ClinVar Detail
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) 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
rs587779008 dbSNP
Genome
hg38
Position
chr3:36,993,584-36,993,584
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121292
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)
8.244566830458728E-6
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