chr3:41224633:A>G Detail (hg38) (CTNNB1, LOC126806658)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:41,266,124-41,266,124 View the variant detail on this assembly version. |
| hg38 | chr3:41,224,633-41,224,633 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001904.3:c.121A>G | NP_001895.1:p.Thr41Ala |
| NM_001098210.1:c.121A>G | NP_001091680.1:p.Thr41Ala | |
| NM_001098209.1:c.121A>G | NP_001091679.1:p.Thr41Ala |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
other
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
2017/10/05 | Spindle cell tumor |
somatic
|
MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
|
other
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University | ||||
|
Pathogenic
|
pancreatic desmoid-type fibromatosis (DTF) |
somatic
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
| Pathogenic; other | 2016-05-01 | no assertion criteria provided | hepatoblastoma |
somatic
|
Detail |
|
Pathogenic
|
1999-09-01 | no assertion criteria provided | Desmoid tumor caused by somatic mutation |
somatic
|
Detail |
|
Likely pathogenic
|
no assertion criteria provided | not provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
association
|
no assertion criteria provided | Atypical endometrial hyperplasia |
somatic
|
Detail | |
|
Likely pathogenic
|
2019-07-18 | criteria provided, single submitter | desmoid tumor |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| Desmoid Fibromatosis | B |
Diagnostic
|
Supports
|
Positive | Somatic | 4 | 18832571 | Detail | |
| Desmoid Fibromatosis | B |
Prognostic
|
Supports
|
Better Outcome | Somatic | 3 | 18832571 | Detail | |
| Desmoid Fibromatosis | B |
Diagnostic
|
Supports
|
Positive | Somatic | 4 | 22766794 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.247 | hepatoblastoma | NA | CLINVAR | Detail | |
| 0.120 | Desmoid tumor caused by somatic mutation | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless r... | CIViC Evidence | Detail |
| In an analysis of 138 desmoid fibromatosis tumors, which is a rare, nonmetastatic neoplasm marked by... | CIViC Evidence | Detail |
| In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in... | CIViC Evidence | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Hepatoblastoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Desmoid tumor caused by somatic mutation | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND not provided | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Atypical endometrial hyperplasia | ClinVar | Detail |
| NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) AND Desmoid tumor | 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
- rs121913412 dbSNP
- Genome
- hg38
- Position
- chr3:41,224,633-41,224,633
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- T41A
- Transcript 1 (CIViC Variant)
- ENST00000349496.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1285
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