chr5:112175639:C>T Detail (hg19) (APC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:112,175,639-112,175,639 |
| hg38 | chr5:112,839,942-112,839,942 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000038.5:c.4348C>T | NP_000029.2:p.Arg1450Ter |
| NM_001127510.2:c.4348C>T | NP_001120982.1:p.Arg1450Ter | |
| NM_001127511.2:c.4294C>T | NP_001120983.2:p.Arg1432Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 45 |
| 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
|
2020/04/20 | fundus of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | body of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | pyloric antrum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | caecum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | colon, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | malignant neoplasm of rectum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2021/07/26 | duodenum |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2021/07/26 | connective and other soft tissue |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2021/07/26 | stomach, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2021/07/26 | other |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2021/07/26 | colon, unspecified |
germline
|
MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
Adenocarcinoma of sigmoid colon (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Colorectal |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
Pathogenic
|
Primary adenocarcinoma of colon (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
colorectal cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
Pathogenic
|
familial adenomatous polyposis |
somatic
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
2020/04/20 | other |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
||
|
Pathogenic
|
2020/04/20 | rectal carcinoma |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-07-07 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 1 |
germline
somatic
unknown
|
Detail |
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
2024-02-06 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-03-29 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2016-11-01 | criteria provided, single submitter | Familial multiple polyposis syndrome |
germline
|
Detail |
|
not provided
|
no assertion provided | APC-Associated Polyposis Disorders |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Polyposis, Adenomatous Intestinal | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND Familial adenomatous polyposis 1 | ClinVar | Detail |
| NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND not provided | ClinVar | Detail |
| NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND Familial multiple polyposis syndrome | ClinVar | Detail |
| NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) AND APC-Associated Polyposis Disorders | ClinVar | 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
- rs121913332 dbSNP
- Genome
- hg19
- Position
- chr5:112,175,639-112,175,639
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser