chr3:36996701:G>A Detail (hg38) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,038,192-37,038,192 View the variant detail on this assembly version. |
| hg38 | chr3:36,996,701-36,996,701 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000249.3:c.199G>A | NP_000240.1:p.Gly67Arg |
| NM_001167617.1:c.-91G>A | ||
| NM_001167618.1:c.-525G>A |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
Lynch syndrome |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
gastric cancer |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2013-09-05 | reviewed by expert panel | Lynch syndrome |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2022-02-01 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-04-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-24 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2023-07-10 | criteria provided, conflicting interpretations | Colorectal cancer, hereditary nonpolyposis, type 2 |
unknown
germline
|
Detail |
|
Pathogenic
|
2019-07-01 | no assertion criteria provided | Lynch-like syndrome |
somatic
|
Detail |
|
Pathogenic
|
2021-01-11 | criteria provided, single submitter | Hereditary nonpolyposis colon cancer |
germline
|
Detail |
|
Pathogenic
|
2020-04-02 | criteria provided, single submitter | Lynch syndrome 1 |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Carcinoma of colon |
unknown
|
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 | The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs be... | BeFree | 16982745 | 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.199G>A (p.Gly67Arg) AND Lynch syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) AND not provided | ClinVar | Detail |
| NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
| NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) AND Lynch-like syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) AND Hereditary nonpolyposis colon cancer | ClinVar | Detail |
| NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) AND Lynch syndrome 1 | ClinVar | Detail |
| NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) AND Carcinoma of colon | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously... | 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
- rs63750206 dbSNP
- Genome
- hg38
- Position
- chr3:36,996,701-36,996,701
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- G67R
- Transcript 1 (CIViC Variant)
- ENST00000231790.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/757
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