chr7:87531302:A>C Detail (hg38) (ABCB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:87,160,618-87,160,618 View the variant detail on this assembly version. |
| hg38 | chr7:87,531,302-87,531,302 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000927.4:c.2677T>G | NP_000918.2:p.Ser893Ala |
| Ensemble | ENST00000265724.8:c.2677T>G | ENST00000265724.8:p.Ser893Ala |
| ENST00000543898.5:c.2485T>G | ENST00000543898.5:p.Ser829Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.508 |
| ToMMo:0.429 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.465 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2003-12-01 | no assertion criteria provided | inflammatory bowel disease 13 |
germline
|
Detail |
|
Benign
|
2014-01-27 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2018-03-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
drug response
|
2018-04-28 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely benign
|
2021-07-21 | criteria provided, single submitter | ABCB1-related disorder |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| breast cancer | B |
Prognostic
|
Supports
|
Better Outcome | Common Germline | 3 | 22906996 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.139 | Colorectal Neoplasms | Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorect... | BeFree | 11980438 | Detail |
| 0.003 | nephrotic syndrome | Our data suggested that MDR1 C3435T or G2677T/A gene polymorphisms are risk fact... | BeFree | 23994685 | Detail |
| 0.006 | Malignant neoplasm of ovary | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... | BeFree | 21327421 | Detail |
| <0.001 | Sickle Cell Dactylitis | The risk for mucosal inflammation was increased in the presence of the G allele ... | BeFree | 19667267 | Detail |
| 0.026 | Crohn Disease | A total of 211 patients with Crohn's disease (CD), 97 patients with ulcerative c... | BeFree | 17260353 | Detail |
| 0.002 | Colorectal Neoplasms | Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorect... | BeFree | 11980438 | Detail |
| <0.001 | sexual dysfunction | This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503... | BeFree | 23356581 | Detail |
| 0.083 | HIV Infections | The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (... | BeFree | 21743379 | Detail |
| 0.194 | epilepsy | The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of... | BeFree | 24213830 | Detail |
| 0.133 | Colorectal Neoplasms | Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorect... | BeFree | 11980438 | Detail |
| 0.006 | leukopenia | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... | BeFree | 21327421 | Detail |
| 0.006 | Epithelial ovarian cancer | Our study represents the largest analysis of ABCB1 SNPs and EOC progression and ... | BeFree | 23917080 | Detail |
| 0.122 | diffuse large B-cell lymphoma | The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... | BeFree | 23829278 | Detail |
| <0.001 | ovarian carcinoma | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... | BeFree | 21327421 | Detail |
| <0.001 | Palmar-plantar erythrodysesthesia syndrome | The risk for mucosal inflammation was increased in the presence of the G allele ... | BeFree | 19667267 | Detail |
| 0.020 | Myeloid Leukemia, Chronic | Three ABCB1 SNPs (C1236T, G2677T, and C3435T) were genotyped in 100 Egyptian pat... | BeFree | 25301112 | Detail |
| 0.083 | HIV Infections | We show that genotyping for ABCB1 variations (rs1045642 and rs2032582) may help ... | BeFree | 23372834 | Detail |
| <0.001 | leukopenia | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... | BeFree | 21327421 | Detail |
| 0.054 | ulcerative colitis | A total of 211 patients with Crohn's disease (CD), 97 patients with ulcerative c... | BeFree | 17260353 | Detail |
| 0.026 | Crohn Disease | The present study examined the association of ABCB1 C3435T and G2677T/A in a lar... | BeFree | 16633048 | Detail |
| 0.130 | neutropenia | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... | BeFree | 21327421 | Detail |
| 0.008 | chronic lymphocytic leukemia | MDR-1 polymorphisms (G2677T and C3435T) in B-chronic lymphocytic leukemia: an im... | BeFree | 20496015 | Detail |
| <0.001 | schizoaffective disorder | The present study does not suggest a major influence of MDR1 G2677T/A and C3435T... | BeFree | 20060871 | Detail |
| 0.026 | Crohn Disease | This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-... | BeFree | 15685540 | Detail |
| 0.026 | HIV Infections | The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (... | BeFree | 21743379 | Detail |
| 0.004 | Drug Resistant Epilepsy | Association analysis of intractable epilepsy with C3435T and G2677T/A ABCB1 gene... | BeFree | 21636342 | Detail |
| <0.001 | Coronary Arteriosclerosis | The association of MDR1 C3435T and G2677T/A polymorphisms with plasma platelet-a... | BeFree | 23816407 | Detail |
| <0.001 | neutropenia | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically ... | BeFree | 21327421 | Detail |
| <0.001 | organic sexual dysfunction | This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503... | BeFree | 23356581 | Detail |
| <0.001 | Sickle Cell Dactylitis | The risk for mucosal inflammation was increased in the presence of the G allele ... | BeFree | 19667267 | Detail |
| 0.013 | diffuse large B-cell lymphoma | The present study evaluated the impact of single gene polymorphisms (SNPs: rs180... | BeFree | 23829278 | Detail |
| 0.054 | ulcerative colitis | This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-... | BeFree | 15685540 | Detail |
| 0.006 | coronary artery disease | The association of MDR1 C3435T and G2677T/A polymorphisms with plasma platelet-a... | BeFree | 23816407 | Detail |
| 0.002 | Acute lymphocytic leukemia | To investigate their possible roles in disease susceptibility and some disease c... | BeFree | 18243305 | Detail |
| 0.014 | schizophrenia | The present study does not suggest a major influence of MDR1 G2677T/A and C3435T... | BeFree | 20060871 | Detail |
| 0.001 | Coronary heart disease | The association of MDR1 C3435T and G2677T/A polymorphisms with plasma platelet-a... | BeFree | 23816407 | Detail |
| <0.001 | Palmar-plantar erythrodysesthesia syndrome | The risk for mucosal inflammation was increased in the presence of the G allele ... | BeFree | 19667267 | Detail |
| 0.014 | schizophrenia | The present study was therefore designed to examine whether the major polymorphi... | BeFree | 16386826 | Detail |
| 0.030 | Malignant neoplasm of ovary | mdr-1 single nucleotide polymorphisms in ovarian cancer tissue: G2677T/A correla... | BeFree | 16467099 | Detail |
| 0.015 | ovarian carcinoma | mdr-1 single nucleotide polymorphisms in ovarian cancer tissue: G2677T/A correla... | BeFree | 16467099 | Detail |
| 0.055 | leukemia | Association of MDR1 G2677T polymorphism and leukemia risk: evidence from a meta-... | BeFree | 24142546 | Detail |
| <0.001 | hiv-infection/aids | Three single nucleotide polymorphisms (SNPs) in MDR1 have been shown to affect P... | BeFree | 19819348 | Detail |
| 0.005 | Hyperbilirubinemia | The MDR1 G2677T/A variation and UGT1A1*28 are independent risk factors for sever... | BeFree | 20504240 | Detail |
| 0.022 | Inflammatory Bowel Diseases | Effects of polymorphism in G2677T/A triallelic region of MDR1 gene in Turkish pa... | BeFree | 19115152 | Detail |
| 0.007 | lymphoid leukemia | In the subgroup analysis, according to the type of leukemia, significant associa... | BeFree | 24142546 | Detail |
| 0.020 | Myeloid Leukemia, Chronic | Association of MDR1 gene polymorphism (G2677T) with imatinib response in Egyptia... | BeFree | 23683876 | Detail |
| 0.009 | Carcinoma of lung | Adenosine triphosphate-binding cassette B1 (ABCB1) (multidrug resistance 1) G267... | BeFree | 17120199 | Detail |
| 0.026 | Crohn Disease | In this study, the G2677T/A polymorphism observed in the MDR1 gene was not found... | BeFree | 19115152 | Detail |
| 0.010 | Acute lymphocytic leukemia | In the subgroup analysis, according to the type of leukemia, significant associa... | BeFree | 24142546 | Detail |
| 0.160 | Precursor Cell Lymphoblastic Leukemia Lymphoma | In the subgroup analysis, according to the type of leukemia, significant associa... | BeFree | 24142546 | Detail |
| 0.127 | Non-small cell lung carcinoma | MDR1 single nucleotide polymorphism G2677T/A and haplotype are correlated with r... | BeFree | 18812689 | Detail |
| <0.001 | Schizophrenia and related disorders | In this study we explored possible epistasis between CYP2D6 (*3, *4, *5, *6 and ... | BeFree | 21142916 | Detail |
| <0.001 | Clear-cell metastatic renal cell carcinoma | The DNA of all patients was genotyped for ABCB1 -2352G>A, -692T>C, 2677G&g... | BeFree | 16788565 | Detail |
| <0.001 | Schizophrenia and related disorders | In this study we explored possible epistasis between CYP2D6 (*3, *4, *5, *6 and ... | BeFree | 21142916 | Detail |
| 0.041 | Malignant neoplasm of lung | Adenosine triphosphate-binding cassette B1 (ABCB1) (multidrug resistance 1) G267... | BeFree | 17120199 | Detail |
| <0.001 | Clear-cell metastatic renal cell carcinoma | The DNA of all patients was genotyped for ABCB1 -2352G>A, -692T>C, 2677G&g... | BeFree | 16788565 | Detail |
| <0.001 | Schizophrenia and related disorders | In this study we explored possible epistasis between CYP2D6 (*3, *4, *5, *6 and ... | BeFree | 21142916 | Detail |
| <0.001 | Schizophrenia and related disorders | In this study we explored possible epistasis between CYP2D6 (*3, *4, *5, *6 and ... | BeFree | 21142916 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A total of 57 women with HER2-positive metastatic breast cancer were analyzed after taxane plus tras... | CIViC Evidence | Detail |
| NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) AND Inflammatory bowel disease 13 | ClinVar | Detail |
| NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) AND not specified | ClinVar | Detail |
| NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) AND not provided | ClinVar | Detail |
| NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) AND Tramadol response | ClinVar | Detail |
| NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) AND ABCB1-related disorder | ClinVar | Detail |
| Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high ... | DisGeNET | Detail |
| Our data suggested that MDR1 C3435T or G2677T/A gene polymorphisms are risk factors of increased sus... | DisGeNET | Detail |
| CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... | DisGeNET | Detail |
| The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... | DisGeNET | Detail |
| A total of 211 patients with Crohn's disease (CD), 97 patients with ulcerative colitis (UC), and 212... | DisGeNET | Detail |
| Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high ... | DisGeNET | Detail |
| This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503, rs2032582, and rs1... | DisGeNET | Detail |
| The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), ... | DisGeNET | Detail |
| The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant... | DisGeNET | Detail |
| Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high ... | DisGeNET | Detail |
| CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... | DisGeNET | Detail |
| Our study represents the largest analysis of ABCB1 SNPs and EOC progression and survival to date, bu... | DisGeNET | Detail |
| The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... | DisGeNET | Detail |
| CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... | DisGeNET | Detail |
| The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... | DisGeNET | Detail |
| Three ABCB1 SNPs (C1236T, G2677T, and C3435T) were genotyped in 100 Egyptian patients with CML under... | DisGeNET | Detail |
| We show that genotyping for ABCB1 variations (rs1045642 and rs2032582) may help predict HIV treatmen... | DisGeNET | Detail |
| CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... | DisGeNET | Detail |
| A total of 211 patients with Crohn's disease (CD), 97 patients with ulcerative colitis (UC), and 212... | DisGeNET | Detail |
| The present study examined the association of ABCB1 C3435T and G2677T/A in a large British case-cont... | DisGeNET | Detail |
| CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... | DisGeNET | Detail |
| MDR-1 polymorphisms (G2677T and C3435T) in B-chronic lymphocytic leukemia: an impact on susceptibili... | DisGeNET | Detail |
| The present study does not suggest a major influence of MDR1 G2677T/A and C3435T polymorphisms on tr... | DisGeNET | Detail |
| This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-characterized Scotti... | DisGeNET | Detail |
| The aim of this study was to investigate the influence of CYP3A5 A6986G, ABCB1 (C3435T and G2677T), ... | DisGeNET | Detail |
| Association analysis of intractable epilepsy with C3435T and G2677T/A ABCB1 gene polymorphisms in Ir... | DisGeNET | Detail |
| The association of MDR1 C3435T and G2677T/A polymorphisms with plasma platelet-activating factor lev... | DisGeNET | Detail |
| CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correl... | DisGeNET | Detail |
| This study measured functionally implicated ABCB1 variants (rs2235015, rs1128503, rs2032582, and rs1... | DisGeNET | Detail |
| The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... | DisGeNET | Detail |
| The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 i... | DisGeNET | Detail |
| This was a case-control analysis of MDR1 C3435T and G2677T SNPs in a large well-characterized Scotti... | DisGeNET | Detail |
| The association of MDR1 C3435T and G2677T/A polymorphisms with plasma platelet-activating factor lev... | DisGeNET | Detail |
| To investigate their possible roles in disease susceptibility and some disease characteristics we ge... | DisGeNET | Detail |
| The present study does not suggest a major influence of MDR1 G2677T/A and C3435T polymorphisms on tr... | DisGeNET | Detail |
| The association of MDR1 C3435T and G2677T/A polymorphisms with plasma platelet-activating factor lev... | DisGeNET | Detail |
| The risk for mucosal inflammation was increased in the presence of the G allele in CYP1A1 2455A/G (O... | DisGeNET | Detail |
| The present study was therefore designed to examine whether the major polymorphisms of MDR1 gene, C3... | DisGeNET | Detail |
| mdr-1 single nucleotide polymorphisms in ovarian cancer tissue: G2677T/A correlates with response to... | DisGeNET | Detail |
| mdr-1 single nucleotide polymorphisms in ovarian cancer tissue: G2677T/A correlates with response to... | DisGeNET | Detail |
| Association of MDR1 G2677T polymorphism and leukemia risk: evidence from a meta-analysis. | DisGeNET | Detail |
| Three single nucleotide polymorphisms (SNPs) in MDR1 have been shown to affect P-gp expression and f... | DisGeNET | Detail |
| The MDR1 G2677T/A variation and UGT1A1*28 are independent risk factors for severe atazanavir-associa... | DisGeNET | Detail |
| Effects of polymorphism in G2677T/A triallelic region of MDR1 gene in Turkish patients with inflamma... | DisGeNET | Detail |
| In the subgroup analysis, according to the type of leukemia, significant association was found betwe... | DisGeNET | Detail |
| Association of MDR1 gene polymorphism (G2677T) with imatinib response in Egyptian chronic myeloid le... | DisGeNET | Detail |
| Adenosine triphosphate-binding cassette B1 (ABCB1) (multidrug resistance 1) G2677T/A gene polymorphi... | DisGeNET | Detail |
| In this study, the G2677T/A polymorphism observed in the MDR1 gene was not found to be a risk factor... | DisGeNET | Detail |
| In the subgroup analysis, according to the type of leukemia, significant association was found betwe... | DisGeNET | Detail |
| In the subgroup analysis, according to the type of leukemia, significant association was found betwe... | DisGeNET | Detail |
| MDR1 single nucleotide polymorphism G2677T/A and haplotype are correlated with response to docetaxel... | DisGeNET | Detail |
| In this study we explored possible epistasis between CYP2D6 (*3, *4, *5, *6 and *1xN), CYP3A5 (*3), ... | DisGeNET | Detail |
| The DNA of all patients was genotyped for ABCB1 -2352G>A, -692T>C, 2677G>T/A (Ala893Ser/Thr... | DisGeNET | Detail |
| In this study we explored possible epistasis between CYP2D6 (*3, *4, *5, *6 and *1xN), CYP3A5 (*3), ... | DisGeNET | Detail |
| Adenosine triphosphate-binding cassette B1 (ABCB1) (multidrug resistance 1) G2677T/A gene polymorphi... | DisGeNET | Detail |
| The DNA of all patients was genotyped for ABCB1 -2352G>A, -692T>C, 2677G>T/A (Ala893Ser/Thr... | DisGeNET | Detail |
| In this study we explored possible epistasis between CYP2D6 (*3, *4, *5, *6 and *1xN), CYP3A5 (*3), ... | DisGeNET | Detail |
| In this study we explored possible epistasis between CYP2D6 (*3, *4, *5, *6 and *1xN), CYP3A5 (*3), ... | 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
- rs2032582 dbSNP
- Genome
- hg38
- Position
- chr7:87,531,302-87,531,302
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1146
- Mean of sample read depth (HGVD)
- 49.76
- Standard deviation of sample read depth (HGVD)
- 28.79
- Number of reference allele (HGVD)
- 946
- Number of alternative allele (HGVD)
- 978
- Allele Frequency (HGVD)
- 0.5083160083160083
- Gene Symbol (HGVD)
- ABCB1
- 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))
- rs2032582
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4289
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7188
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 4019
- East Asian Heterozygous Counts (ExAC)
- 1593
- East Asian Homozygous Counts (ExAC)
- 929
- East Asian Allele Frequency (ExAC)
- 0.46526973836536234
- Chromosome Counts in All Race (ExAC)
- 121134
- Allele Counts in All Race (ExAC)
- 65804
- Heterozygous Counts in All Race (ExAC)
- 25533
- Homozygous Counts in All Race (ExAC)
- 19017
- Allele Frequency in All Race (ExAC)
- 0.5432331137418066
- Variant (CIViC) (CIViC Variant)
- S893A/T
- Transcript 1 (CIViC Variant)
- ENST00000265724.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/451
- Summary (CIViC Variant)
- Refer to https://www.pharmgkb.org/rsid/rs2032582 for more information.
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