chr14:75046831:G>A Detail (hg38) (MLH3)

Information

Genome

Assembly Position
hg19 chr14:75,513,534-75,513,534 View the variant detail on this assembly version.
hg38 chr14:75,046,831-75,046,831

HGVS

Type Transcript Protein
RefSeq NM_001040108.1:c.2825C>T NP_001035197.1:p.Thr942Ile
NM_014381.2:c.2825C>T NP_055196.2:p.Thr942Ile
Ensemble ENST00000355774.7:c.2825C>T ENST00000355774.7:p.Thr942Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.060
ToMMo:0.050
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.052

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 604395 OMIM
HGNC 7128 HGNC
Ensembl ENSG00000119684 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51339096 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Colorectal cancer, hereditary nonpolyposis, type 7 germline Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2018-07-20 criteria provided, single submitter not provided germline Detail
Benign 2019-03-26 criteria provided, single submitter MLH3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 cervix carcinoma Mismatch repair gene MLH3 Pro844Leu and Thr942Ile polymorphisms and the suscepti... BeFree 24759751 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) AND Colorectal cancer, hereditary nonpolyposis, type 7 ClinVar Detail
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) AND not specified ClinVar Detail
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) AND not provided ClinVar Detail
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) AND MLH3-related disorder ClinVar Detail
Mismatch repair gene MLH3 Pro844Leu and Thr942Ile polymorphisms and the susceptibility to cervical c... 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
rs17102999 dbSNP
Genome
hg38
Position
chr14:75,046,831-75,046,831
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
122.16
Standard deviation of sample read depth (HGVD)
57.59
Number of reference allele (HGVD)
2274
Number of alternative allele (HGVD)
146
Allele Frequency (HGVD)
0.0603305785123967
Gene Symbol (HGVD)
MLH3
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))
rs17102999
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0503
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
843
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
447
East Asian Heterozygous Counts (ExAC)
427
East Asian Homozygous Counts (ExAC)
10
East Asian Allele Frequency (ExAC)
0.05165241506817657
Chromosome Counts in All Race (ExAC)
121368
Allele Counts in All Race (ExAC)
1206
Heterozygous Counts in All Race (ExAC)
1160
Homozygous Counts in All Race (ExAC)
23
Allele Frequency in All Race (ExAC)
0.009936721376310065
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