chr14:75513828:G>A Detail (hg19) (MLH3)

Information

Genome

Assembly Position
hg19 chr14:75,513,828-75,513,828
hg38 chr14:75,047,125-75,047,125 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_014381.2:c.2531C>T NP_055196.2:p.Pro844Leu
NM_001040108.1:c.2531C>T NP_001035197.1:p.Pro844Leu
Ensemble ENST00000380968.6:c.2531C>T ENST00000380968.6:p.Pro844Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.152
ToMMo:0.170
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.159

Prediction

ClinVar

Clinical Significance 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 tgv51339154 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2020-07-28 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Colorectal cancer, hereditary nonpolyposis, type 7 germline Detail
Benign 2018-06-22 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 breast carcinoma Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polym... BeFree 19781088 Detail
0.004 breast carcinoma Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polym... BeFree 19781088 Detail
0.013 Malignant neoplasm of breast Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polym... BeFree 19781088 Detail
0.003 Malignant neoplasm of breast Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polym... BeFree 19781088 Detail
0.008 breast carcinoma Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polym... BeFree 19781088 Detail
<0.001 breast carcinoma Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polym... BeFree 19781088 Detail
<0.001 Malignant neoplasm of breast Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polym... BeFree 19781088 Detail
0.015 Malignant neoplasm of breast Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polym... BeFree 19781088 Detail
<0.001 cervix carcinoma Mismatch repair gene MLH3 Pro844Leu and Thr942Ile polymorphisms and the suscepti... BeFree 24759751 Detail
0.002 colorectal carcinoma No association between two MLH3 variants (S845G and P844L)and colorectal cancer ... BeFree 15193445 Detail
0.003 male infertility The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertil... BeFree 19808033 Detail
0.003 oligospermia The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertil... BeFree 19808033 Detail
0.003 azoospermia The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertil... BeFree 19808033 Detail
<0.001 oligospermia The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertil... BeFree 19808033 Detail
0.005 azoospermia The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertil... BeFree 19808033 Detail
0.003 male infertility The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertil... BeFree 19808033 Detail
0.012 colorectal cancer No association between two MLH3 variants (S845G and P844L)and colorectal cancer ... BeFree 15193445 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu) AND not specified ClinVar Detail
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu) AND Colorectal cancer, hereditary nonpolyposis, type 7 ClinVar Detail
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu) AND not provided ClinVar Detail
Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polymorphism GA (Leu/Pro)... DisGeNET Detail
Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polymorphism GA (Leu/Pro)... DisGeNET Detail
Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polymorphism GA (Leu/Pro)... DisGeNET Detail
Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polymorphism GA (Leu/Pro)... DisGeNET Detail
Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polymorphism GA (Leu/Pro)... DisGeNET Detail
Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polymorphism GA (Leu/Pro)... DisGeNET Detail
Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polymorphism GA (Leu/Pro)... DisGeNET Detail
Using unconditional logistic regression we found that MLH3 (L844P, G&gt;A) polymorphism GA (Leu/Pro)... DisGeNET Detail
Mismatch repair gene MLH3 Pro844Leu and Thr942Ile polymorphisms and the susceptibility to cervical c... DisGeNET Detail
No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. DisGeNET Detail
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia... DisGeNET Detail
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia... DisGeNET Detail
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia... DisGeNET Detail
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia... DisGeNET Detail
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia... DisGeNET Detail
The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia... DisGeNET Detail
No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk. 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
rs175080 dbSNP
Genome
hg19
Position
chr14:75,513,828-75,513,828
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1195
Mean of sample read depth (HGVD)
86.44
Standard deviation of sample read depth (HGVD)
45.59
Number of reference allele (HGVD)
2026
Number of alternative allele (HGVD)
364
Allele Frequency (HGVD)
0.15230125523012553
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))
rs175080
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1704
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2856
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
1378
East Asian Heterozygous Counts (ExAC)
1152
East Asian Homozygous Counts (ExAC)
113
East Asian Allele Frequency (ExAC)
0.1593432007400555
Chromosome Counts in All Race (ExAC)
121290
Allele Counts in All Race (ExAC)
50049
Heterozygous Counts in All Race (ExAC)
27839
Homozygous Counts in All Race (ExAC)
11105
Allele Frequency in All Race (ExAC)
0.41263912935938657
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