chr3:37012098:C>T Detail (hg38) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,053,589-37,053,589 View the variant detail on this assembly version. |
| hg38 | chr3:37,012,098-37,012,098 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001258273.1:c.-48C>T | |
| NM_001167619.1:c.-48C>T | ||
| NM_000249.3:c.676C>T | NP_000240.1:p.Arg226Ter |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-03-16 | criteria provided, multiple submitters, no conflicts | Colorectal cancer, hereditary nonpolyposis, type 2 |
unknown
germline
|
Detail |
|
Pathogenic
|
2013-09-05 | reviewed by expert panel | Lynch syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-04-11 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-04-11 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Lynch syndrome 1 |
germline
|
Detail | |
|
Pathogenic
|
2019-07-01 | no assertion criteria provided | Lynch-like syndrome |
somatic
|
Detail |
|
Pathogenic
|
2001-05-01 | no assertion criteria provided | Mismatch repair cancer syndrome 1 |
germline
|
Detail |
|
Pathogenic
|
2022-06-21 | criteria provided, single submitter | Muir-Torré syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-09-15 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| Lynch syndrome | E |
Predisposing
|
Supports
|
Uncertain Significance | Somatic | 2 | 25111426 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.492 | Turcot syndrome (disorder) | NA | CLINVAR | Detail | |
| 0.440 | Hereditary Non-Polyposis Colon Cancer Type 2 | NA | CLINVAR | Detail | |
| 0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.329 | Hereditary Nonpolyposis Colorectal Cancer | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This variant, identified in a case of microsatellite-unstable colorectal cancer was confirmed to be ... | CIViC Evidence | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Lynch syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND not provided | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Lynch syndrome 1 | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Lynch-like syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Mismatch repair cancer syndrome 1 | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Muir-Torré syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) AND Breast and/or ovarian cancer | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs63751615 dbSNP
- Genome
- hg38
- Position
- chr3:37,012,098-37,012,098
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8642
- 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)
- 120876
- 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)
- 8.272940865018697E-6
- Variant (CIViC) (CIViC Variant)
- R226*
- Transcript 1 (CIViC Variant)
- ENST00000231790.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/754
Genome browser