chr3:37007004:G>C Detail (hg38) (MLH1)

Information

Genome

Assembly Position
hg19 chr3:37,048,495-37,048,495 View the variant detail on this assembly version.
hg38 chr3:37,007,004-37,007,004

HGVS

Type Transcript Protein
RefSeq NM_000249.3:c.394G>C NP_000240.1:p.Asp132His
NM_001167617.1:c.100G>C NP_001161089.1:p.Asp34His
NM_001167618.1:c.-330G>C
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 Benign
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
risk factor 2004-07-01 no assertion criteria provided Colorectal cancer, sporadic, susceptibility to germline Detail
Benign 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Likely benign 2021-01-26 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2021-12-07 criteria provided, conflicting interpretations not specified germline unknown Detail
Benign Likely benign 2023-07-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Benign 2024-01-31 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Colorectal cancer, hereditary nonpolyposis, type 2 germline Detail
Likely benign 2022-08-24 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.014 uterine corpus cancer Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer... BeFree 15991064 Detail
0.160 colorectal cancer The MLH1 D132H variant is associated with susceptibility to sporadic colorectal ... BeFree 15184898 Detail
<0.001 uterine cancer The MLH1 D132H risk variant has significantly lower allele frequency in American... BeFree 15991064 Detail
0.160 colorectal cancer Genetic testing for the MLH1 D132H allele exclusively is therefore unlikely to b... BeFree 15991064 Detail
0.014 Malignant neoplasm of endometrium Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer... BeFree 15991064 Detail
0.082 colorectal carcinoma Genetic testing for the MLH1 D132H allele exclusively is therefore unlikely to b... BeFree 15991064 Detail
0.082 colorectal carcinoma The MLH1 D132H variant is associated with susceptibility to sporadic colorectal ... BeFree 15184898 Detail
0.037 endometrial carcinoma Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer... BeFree 15991064 Detail
0.329 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000249.4(MLH1):c.394G>C (p.Asp132His) AND Colorectal cancer, sporadic, susceptibility to ClinVar Detail
NM_000249.4(MLH1):c.394G>C (p.Asp132His) AND Lynch syndrome ClinVar Detail
NM_000249.4(MLH1):c.394G>C (p.Asp132His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000249.4(MLH1):c.394G>C (p.Asp132His) AND not specified ClinVar Detail
NM_000249.4(MLH1):c.394G>C (p.Asp132His) AND not provided ClinVar Detail
NM_000249.4(MLH1):c.394G>C (p.Asp132His) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000249.4(MLH1):c.394G>C (p.Asp132His) AND Colorectal cancer, hereditary nonpolyposis, type 2 ClinVar Detail
NM_000249.4(MLH1):c.394G>C (p.Asp132His) AND Breast and/or ovarian cancer ClinVar Detail
NA DisGeNET Detail
Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients. DisGeNET Detail
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. DisGeNET Detail
The MLH1 D132H risk variant has significantly lower allele frequency in American compared with Israe... DisGeNET Detail
Genetic testing for the MLH1 D132H allele exclusively is therefore unlikely to be cost effective for... DisGeNET Detail
Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients. DisGeNET Detail
Genetic testing for the MLH1 D132H allele exclusively is therefore unlikely to be cost effective for... DisGeNET Detail
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. DisGeNET Detail
Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients. 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
rs28930073 dbSNP
Genome
hg38
Position
chr3:37,007,004-37,007,004
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8638
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)
121082
Allele Counts in All Race (ExAC)
24
Heterozygous Counts in All Race (ExAC)
24
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.982127814208553E-4
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