chr7:87531302:A>T 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>A NP_000918.2:p.Ser893Thr
Ensemble ENST00000265724.8:c.2677T>A ENST00000265724.8:p.Ser893Thr
ENST00000543898.5:c.2485T>A ENST00000543898.5:p.Ser829Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.280
ToMMo:0.167
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.139

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 171050 OMIM
HGNC 40 HGNC
Ensembl ENSG00000085563 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30007149 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-01-06 criteria provided, single submitter not specified germline Detail
not provided 2016-03-10 no assertion provided Neoplasm of ovary 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
ovarian cancer Paclitaxel B Predictive Supports Sensitivity/Response Rare Germline 3 16467099 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&gt;A, -692T&gt;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&gt;A, -692T&gt;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

DescrptionSourceLinks
The ABCB1 G2677T/A (S893T, rs2032582) homozygous variant was positively correlated with response to ... CIViC Evidence Detail
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr) AND not specified ClinVar Detail
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr) AND Neoplasm of ovary ClinVar Detail
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr) 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&gt;A, -692T&gt;C, 2677G&gt;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&gt;A, -692T&gt;C, 2677G&gt;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
T
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)
368
Allele Frequency (HGVD)
0.2800608828006088
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))
0.1669
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2797
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)
1203
East Asian Heterozygous Counts (ExAC)
453
East Asian Homozygous Counts (ExAC)
91
East Asian Allele Frequency (ExAC)
0.13926834915489697
Chromosome Counts in All Race (ExAC)
121134
Allele Counts in All Race (ExAC)
4498
Heterozygous Counts in All Race (ExAC)
1957
Homozygous Counts in All Race (ExAC)
152
Allele Frequency in All Race (ExAC)
0.037132431852328826
Variant (CIViC) (CIViC Variant)
S893T
Transcript 1 (CIViC Variant)
ENST00000265724.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/262
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