chr19:45409478:C>A Detail (hg38) (ERCC1, POLR1G)

Information

Genome

Assembly Position
hg19 chr19:45,912,736-45,912,736 View the variant detail on this assembly version.
hg38 chr19:45,409,478-45,409,478

HGVS

Type Transcript Protein
RefSeq NM_001983.3:c.*197G>T
Ensemble ENST00000300853.8:c.*197G>T
ENST00000423698.6:c.*197G>T
Type Transcript Protein
RefSeq NM_012099.1:c.1510C>A NP_036231.1:p.Gln504Lys
NM_001297590.1:c.1516C>A NP_001284519.1:p.Gln506Lys
Ensemble ENST00000309424.8:c.1510C>A ENST00000309424.8:p.Gln504Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.230
ToMMo:0.234
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.358

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 126380 OMIM
HGNC 3433 HGNC
Ensembl ENSG00000012061 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62287073 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 107325 OMIM
HGNC 24219 HGNC
Ensembl ENSG00000117877 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62287073 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.156 Non-small cell lung carcinoma In conclusion, ERCC1 rs11615 and rs3212986 polymorphism were associated with a p... BeFree 24859833 Detail
0.002 Carcinogenesis Two polymorphisms of ERCC1, T19007C (rs11615) and C8092A (rs3212986), have been ... BeFree 19361884 Detail
0.003 Xeroderma pigmentosum, group F We investigated the association between polymorphisms in excision repair cross-c... BeFree 24861646 Detail
0.006 colorectal cancer We investigated the association between polymorphisms in excision repair cross-c... BeFree 24861646 Detail
<0.001 Osteosarcoma of bone Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.002 Colorectal cancer metastatic We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 J... BeFree 23547850 Detail
0.002 Osteosarcoma of bone Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.003 Colorectal cancer metastatic We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 J... BeFree 23547850 Detail
0.002 Xeroderma Pigmentosum, Complementation Group D The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD poly... BeFree 26426637 Detail
<0.001 colorectal carcinoma We investigated the association between polymorphisms in excision repair cross-c... BeFree 24861646 Detail
0.003 osteosarcoma Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.004 osteosarcoma Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793),... BeFree 21826087 Detail
0.444 Xeroderma pigmentosum, group F We investigated the association between polymorphisms in excision repair cross-c... BeFree 24861646 Detail
0.004 osteosarcoma We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... BeFree 23098477 Detail
0.011 Glioma Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 p... BeFree 25867436 Detail
0.012 Glioma Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 p... BeFree 25867436 Detail
0.003 osteosarcoma We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... BeFree 23098477 Detail
0.002 Osteosarcoma of bone We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... BeFree 23098477 Detail
<0.001 Osteosarcoma of bone We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERC... BeFree 23098477 Detail
<0.001 anemia Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated ... BeFree 25495407 Detail
<0.001 neuropathy Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated ... BeFree 25495407 Detail
<0.001 anemia Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated ... BeFree 25495407 Detail
0.001 neuropathy Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated ... BeFree 25495407 Detail
0.002 esophageal carcinoma ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cance... BeFree 23962907 Detail
<0.001 Infusion related reaction Two SNPs associated with docetaxel toxicity were identified: CYP3A4*1B with infu... BeFree 25495407 Detail
<0.001 Infusion related reaction Two SNPs associated with docetaxel toxicity were identified: CYP3A4*1B with infu... BeFree 25495407 Detail
0.014 Esophageal Neoplasms ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cance... BeFree 23962907 Detail
0.012 Malignant neoplasm of esophagus ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cance... BeFree 23962907 Detail
0.011 Glioma We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs1... BeFree 24500421 Detail
0.012 Glioma We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs1... BeFree 24500421 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_012099.3(POLR1G):c.1510C>A (p.Gln504Lys) AND not provided ClinVar Detail
In conclusion, ERCC1 rs11615 and rs3212986 polymorphism were associated with a poor response to chem... DisGeNET Detail
Two polymorphisms of ERCC1, T19007C (rs11615) and C8092A (rs3212986), have been reported to affect b... DisGeNET Detail
We investigated the association between polymorphisms in excision repair cross-complementation group... DisGeNET Detail
We investigated the association between polymorphisms in excision repair cross-complementation group... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 Japanese patients wit... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 Japanese patients wit... DisGeNET Detail
The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD polymorphisms (rs13181 a... DisGeNET Detail
We investigated the association between polymorphisms in excision repair cross-complementation group... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs176... DisGeNET Detail
We investigated the association between polymorphisms in excision repair cross-complementation group... DisGeNET Detail
We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... DisGeNET Detail
Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 polymorphisms and gli... DisGeNET Detail
Systematic review on the association between ERCC1 rs3212986 and ERCC2 rs13181 polymorphisms and gli... DisGeNET Detail
We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... DisGeNET Detail
We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... DisGeNET Detail
We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERC... DisGeNET Detail
Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERC... DisGeNET Detail
Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERC... DisGeNET Detail
Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERC... DisGeNET Detail
Regarding paclitaxel toxicity: CYP2C8 HapC and CYP2C8 rs1934951 were associated with anemia; and ERC... DisGeNET Detail
ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated w... DisGeNET Detail
Two SNPs associated with docetaxel toxicity were identified: CYP3A4*1B with infusion-related reactio... DisGeNET Detail
Two SNPs associated with docetaxel toxicity were identified: CYP3A4*1B with infusion-related reactio... DisGeNET Detail
ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated w... DisGeNET Detail
ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated w... DisGeNET Detail
We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs13181 (OR = 1.18 (1.0... DisGeNET Detail
We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs13181 (OR = 1.18 (1.0... 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
rs3212986 dbSNP
Genome
hg38
Position
chr19:45,409,478-45,409,478
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1194
Mean of sample read depth (HGVD)
54.78
Standard deviation of sample read depth (HGVD)
26.71
Number of reference allele (HGVD)
1838
Number of alternative allele (HGVD)
550
Allele Frequency (HGVD)
0.23031825795644892
Gene Symbol (HGVD)
CD3EAP
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))
rs3212986
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2338
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3919
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
6814
East Asian Allele Counts (ExAC)
2437
East Asian Heterozygous Counts (ExAC)
1709
East Asian Homozygous Counts (ExAC)
364
East Asian Allele Frequency (ExAC)
0.3576460228940417
Chromosome Counts in All Race (ExAC)
94808
Allele Counts in All Race (ExAC)
30686
Heterozygous Counts in All Race (ExAC)
22092
Homozygous Counts in All Race (ExAC)
4297
Allele Frequency in All Race (ExAC)
0.32366466964813095
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