chr4:89052323:G>T Detail (hg19) (ABCG2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:89,052,323-89,052,323 |
| hg38 | chr4:88,131,171-88,131,171 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004827.2:c.421C>A | NP_004818.2:p.Gln141Lys |
| NM_001257386.1:c.421C>A | NP_001244315.1:p.Gln141Lys | |
| Ensemble | ENST00000237612.8:c.421C>A | ENST00000237612.8:p.Gln141Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.296 |
| ToMMo:0.293 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.301 |
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
association
|
2009-11-04 | no assertion criteria provided | Uric acid concentration, serum, quantitative trait locus 1 |
germline
|
Detail |
|
association
|
2013-03-18 | no assertion criteria provided |
germline
|
Detail | |
|
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail | |
not provided
|
2016-03-10 | no assertion provided | Neoplasm of ovary |
somatic
|
Detail |
|
drug response
|
2017-01-01 | criteria provided, single submitter |
germline
|
Detail | |
|
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail | |
Benign
|
2019-11-18 | criteria provided, single submitter | ABCG2-related disorder |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| ovarian cancer | B |
Prognostic
|
Supports
|
Better Outcome | Common Germline | 3 | 22112610 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Acute lymphocytic leukemia | To investigate their possible roles in disease susceptibility and some disease c... | BeFree | 18243305 | Detail |
| <0.001 | prostate carcinoma | To determine if the C421A single nucleotide polymorphism (SNP) in the ATP-bindin... | BeFree | 18710444 | Detail |
| 0.003 | Malignant neoplasm of prostate | Association of the ABCG2 C421A polymorphism with prostate cancer risk and surviv... | BeFree | 18710444 | Detail |
| <0.001 | prostate carcinoma | Association of the ABCG2 C421A polymorphism with prostate cancer risk and surviv... | BeFree | 18710444 | Detail |
| 0.800 | cystic fibrosis | In the present work we examined the stability and cellular processing of the Q14... | BeFree | 23800412 | Detail |
| 0.001 | chronic lymphocytic leukemia | Furthermore, a decreased risk of chronic lymphocytic leukemia (CLL) was associat... | BeFree | 21918980 | Detail |
| <0.001 | Malignant neoplasm of prostate | To determine if the C421A single nucleotide polymorphism (SNP) in the ATP-bindin... | BeFree | 18710444 | Detail |
| 0.006 | diarrhea | One variant, a common functional single-nucleotide polymorphism (SNP) in the ABC... | BeFree | 17148776 | Detail |
| 0.002 | Serum uric acid observed | [Meta-analysis of 28,141 individuals identifies common variants within five new ... | GAD | 19503597 | Detail |
| 0.012 | hyperuricemia | The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4... | BeFree | 23238572 | Detail |
| 0.005 | Carcinoma of lung | In conclusion, this study prioritizes ABCC3 C-211T and ABCG2 C421A as candidate ... | BeFree | 19107936 | Detail |
| 0.123 | diffuse large B-cell lymphoma | ABCG2 Q141K polymorphism is associated with chemotherapy-induced diarrhea in pat... | BeFree | 19032367 | Detail |
| 0.014 | hyperuricemia | The multidrug ATP-binding cassette, subfamily G, 2 (ABCG2) transporter was recen... | BeFree | 23493553 | Detail |
| <0.001 | diarrhea | This study demonstrates that the ABCG2 Q141K polymorphism may correlate with che... | BeFree | 19032367 | Detail |
| <0.001 | androgen independent prostate cancer | Due to the expression of ABCG2 in the prostate, together with the purported role... | BeFree | 18710444 | Detail |
| 0.012 | Malignant neoplasm of lung | In conclusion, this study prioritizes ABCC3 C-211T and ABCG2 C421A as candidate ... | BeFree | 19107936 | Detail |
| 0.014 | hyperuricemia | [The association of the causal ABCG2 rs2231142 variant with uric acid levels and... | GAD | 20421215 | Detail |
| 0.002 | cystic fibrosis | In the present work we examined the stability and cellular processing of the Q14... | BeFree | 23800412 | Detail |
| <0.001 | Chronic tophaceous gout | Joint effects of alcohol consumption and ABCG2 Q141K on chronic tophaceous gout ... | BeFree | 24532835 | Detail |
| 0.142 | gout | Identification of low-frequency variants associated with gout and serum uric aci... | GWASCAT | 21983786 | Detail |
| 0.142 | gout | [The association of the causal ABCG2 rs2231142 variant with uric acid levels and... | GAD | 20421215 | Detail |
| 0.006 | diarrhea | ABCG2 Q141K polymorphism is associated with chemotherapy-induced diarrhea in pat... | BeFree | 19032367 | Detail |
| <0.001 | diarrhea | On multivariate analysis, grade I-IV diarrhea was statistically significant acco... | BeFree | 19032367 | Detail |
| 0.014 | hyperuricemia | The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4... | BeFree | 23238572 | Detail |
| 0.014 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.102 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.016 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.099 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.017 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.096 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.006 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.003 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.014 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.021 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.017 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.017 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.019 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.101 | Malignant neoplasm of breast | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.017 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
| 0.022 | breast carcinoma | Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... | BeFree | 17180579 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The ABCG2 Q141K variant was correlated with higher progression-free survival and overall survival i... | CIViC Evidence | Detail |
| NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND Uric acid concentration, serum, quantitative trait loc... | ClinVar | Detail |
| NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND Blood group, Junior system | ClinVar | Detail |
| NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND rosuvastatin response - Efficacy | ClinVar | Detail |
| NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND Neoplasm of ovary | ClinVar | Detail |
| NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND Gemcitabine response | ClinVar | Detail |
| NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND rosuvastatin response - Metabolism/PK | ClinVar | Detail |
| NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND ABCG2-related disorder | ClinVar | Detail |
| To investigate their possible roles in disease susceptibility and some disease characteristics we ge... | DisGeNET | Detail |
| To determine if the C421A single nucleotide polymorphism (SNP) in the ATP-binding cassette transport... | DisGeNET | Detail |
| Association of the ABCG2 C421A polymorphism with prostate cancer risk and survival. | DisGeNET | Detail |
| Association of the ABCG2 C421A polymorphism with prostate cancer risk and survival. | DisGeNET | Detail |
| In the present work we examined the stability and cellular processing of the Q141K ABCG2 variant, as... | DisGeNET | Detail |
| Furthermore, a decreased risk of chronic lymphocytic leukemia (CLL) was associated with the ABCG2 rs... | DisGeNET | Detail |
| To determine if the C421A single nucleotide polymorphism (SNP) in the ATP-binding cassette transport... | DisGeNET | Detail |
| One variant, a common functional single-nucleotide polymorphism (SNP) in the ABCG2 gene, was associa... | DisGeNET | Detail |
| [Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence ... | DisGeNET | Detail |
| The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4×10(-50)) and ABCG2 ... | DisGeNET | Detail |
| In conclusion, this study prioritizes ABCC3 C-211T and ABCG2 C421A as candidate transporter SNPs to ... | DisGeNET | Detail |
| ABCG2 Q141K polymorphism is associated with chemotherapy-induced diarrhea in patients with diffuse l... | DisGeNET | Detail |
| The multidrug ATP-binding cassette, subfamily G, 2 (ABCG2) transporter was recently identified as an... | DisGeNET | Detail |
| This study demonstrates that the ABCG2 Q141K polymorphism may correlate with chemotherapy-induced di... | DisGeNET | Detail |
| Due to the expression of ABCG2 in the prostate, together with the purported role of dietary carcinog... | DisGeNET | Detail |
| In conclusion, this study prioritizes ABCC3 C-211T and ABCG2 C421A as candidate transporter SNPs to ... | DisGeNET | Detail |
| [The association of the causal ABCG2 rs2231142 variant with uric acid levels and gout was confirmed ... | DisGeNET | Detail |
| In the present work we examined the stability and cellular processing of the Q141K ABCG2 variant, as... | DisGeNET | Detail |
| Joint effects of alcohol consumption and ABCG2 Q141K on chronic tophaceous gout risk. | DisGeNET | Detail |
| Identification of low-frequency variants associated with gout and serum uric acid levels. | DisGeNET | Detail |
| [The association of the causal ABCG2 rs2231142 variant with uric acid levels and gout was confirmed ... | DisGeNET | Detail |
| ABCG2 Q141K polymorphism is associated with chemotherapy-induced diarrhea in patients with diffuse l... | DisGeNET | Detail |
| On multivariate analysis, grade I-IV diarrhea was statistically significant according to ABCG2 Q141K... | DisGeNET | Detail |
| The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4×10(-50)) and ABCG2 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | DisGeNET | Detail |
| Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... | 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
- rs2231142 dbSNP
- Genome
- hg19
- Position
- chr4:89,052,323-89,052,323
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 128.20
- Standard deviation of sample read depth (HGVD)
- 59.66
- Number of reference allele (HGVD)
- 1702
- Number of alternative allele (HGVD)
- 717
- Allele Frequency (HGVD)
- 0.2964034725093014
- Gene Symbol (HGVD)
- ABCG2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2231142
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2926
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4904
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 2599
- East Asian Heterozygous Counts (ExAC)
- 1827
- East Asian Homozygous Counts (ExAC)
- 386
- East Asian Allele Frequency (ExAC)
- 0.30067098565478945
- Chromosome Counts in All Race (ExAC)
- 121364
- Allele Counts in All Race (ExAC)
- 14323
- Heterozygous Counts in All Race (ExAC)
- 11961
- Homozygous Counts in All Race (ExAC)
- 1181
- Allele Frequency in All Race (ExAC)
- 0.11801687485580567
- Variant (CIViC) (CIViC Variant)
- Q141K
- Transcript 1 (CIViC Variant)
- ENST00000237612.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/260
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