chr14:75047125:G>A Detail (hg38) (MLH3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:75,513,828-75,513,828 View the variant detail on this assembly version. |
| hg38 | chr14:75,047,125-75,047,125 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001040108.1:c.2531C>T | NP_001035197.1:p.Pro844Leu |
| NM_014381.2:c.2531C>T | NP_055196.2:p.Pro844Leu | |
| Ensemble | ENST00000355774.7:c.2531C>T | ENST00000355774.7: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 | |
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>A) polym... | BeFree | 19781088 | Detail |
| 0.004 | breast carcinoma | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.013 | Malignant neoplasm of breast | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.003 | Malignant neoplasm of breast | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.008 | breast carcinoma | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| <0.001 | breast carcinoma | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| <0.001 | Malignant neoplasm of breast | Using unconditional logistic regression we found that MLH3 (L844P, G>A) polym... | BeFree | 19781088 | Detail |
| 0.015 | Malignant neoplasm of breast | Using unconditional logistic regression we found that MLH3 (L844P, G>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
| Descrption | Source | Links |
|---|---|---|
| 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>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro)... | DisGeNET | Detail |
| Using unconditional logistic regression we found that MLH3 (L844P, G>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
- hg38
- Position
- chr14:75,047,125-75,047,125
- 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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