chr3:37042331:G>A Detail (hg38) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,083,822-37,083,822 View the variant detail on this assembly version. |
| hg38 | chr3:37,042,331-37,042,331 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000249.3:c.1731G>A | NP_000240.1:p.Ser577= |
| NM_001167617.1:c.1437G>A | NP_001161089.1:p.Ser479= | |
| NM_001167618.1:c.1008G>A | NP_001161090.1:p.Ser336= |
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
|
2022-05-05 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2023-08-11 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-12-30 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
|
Pathogenic
|
2023-03-15 | criteria provided, multiple submitters, no conflicts | Colorectal cancer, hereditary nonpolyposis, type 2 |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-07-13 | criteria provided, single submitter | Hereditary nonpolyposis colon cancer |
germline
|
Detail |
|
Pathogenic
|
2021-08-23 | no assertion criteria provided |
germline
|
Detail | |
not provided
|
no assertion provided | Lynch syndrome 1 |
germline
|
Detail | |
|
Pathogenic
|
2021-12-08 | criteria provided, single submitter | Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-12-08 | criteria provided, single submitter | Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome |
unknown
|
Detail |
|
Pathogenic
|
2021-12-08 | criteria provided, single submitter | Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-08-31 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.329 | Hereditary Nonpolyposis Colorectal Cancer | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND Lynch syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND not provided | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND Hereditary nonpolyposis colon cancer | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND Colon cancer | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND Lynch syndrome 1 | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND multiple conditions | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND multiple conditions | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND multiple conditions | ClinVar | Detail |
| NM_000249.4(MLH1):c.1731G>A (p.Ser577=) AND Breast and/or ovarian cancer | ClinVar | 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
- rs63751657 dbSNP
- Genome
- hg38
- Position
- chr3:37,042,331-37,042,331
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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