chr16:14029033:G>A Detail (hg19) (ERCC4)

Information

Genome

Assembly Position
hg19 chr16:14,029,033-14,029,033
hg38 chr16:13,935,176-13,935,176 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005236.2:c.1244G>A NP_005227.1:p.Arg415Gln
Ensemble ENST00000311895.8:c.1244G>A ENST00000311895.8:p.Arg415Gln
ENST00000682617.1:c.1382G>A ENST00000682617.1:p.Arg461Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 133520 OMIM
HGNC 3436 HGNC
Ensembl ENSG00000175595 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2021-12-10 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2023-07-07 criteria provided, multiple submitters, no conflicts Xeroderma pigmentosum, group F germline Detail
Benign 2024-02-01 criteria provided, single submitter Cockayne syndrome,Fanconi anemia complementation group Q,Xeroderma pigmentosum, group F germline Detail
Benign 2024-02-01 criteria provided, single submitter Cockayne syndrome,Fanconi anemia complementation group Q,Xeroderma pigmentosum, group F germline Detail
Benign 2024-02-01 criteria provided, single submitter Cockayne syndrome,Fanconi anemia complementation group Q,Xeroderma pigmentosum, group F germline Detail
Benign 2019-02-28 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.085 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.008 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.015 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.011 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.009 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.019 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.001 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.004 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.018 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.023 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.013 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.098 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.004 breast carcinoma In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
<0.001 breast carcinoma In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.032 Malignant neoplasm of breast In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.010 Malignant neoplasm of breast In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.032 Malignant neoplasm of breast Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and br... BeFree 21424776 Detail
0.002 breast carcinoma Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and br... BeFree 21424776 Detail
0.019 Malignant neoplasm of breast Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and br... BeFree 21424776 Detail
0.004 breast carcinoma Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and br... BeFree 21424776 Detail
<0.001 breast fibrocystic disease Variant alleles of XRCC1 Arg(194)Trp (rs1799782) and ERCC4 Arg(415)Gln (rs180006... BeFree 19124519 Detail
0.020 Malignant neoplasm of lung For subgroup of lung cancer, A allele of ERCC4 rs1800067 A/G polymorphism was si... BeFree 25292041 Detail
0.032 Malignant neoplasm of breast To investigate whether monoallelic ERCC4 gene defects play some role in the inhe... BeFree 24465539 Detail
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
0.004 breast carcinoma To investigate whether monoallelic ERCC4 gene defects play some role in the inhe... BeFree 24465539 Detail
<0.001 Adenocarcinoma of pancreas Carriers of one or two XPF/ERCC4 minor alleles at R415Q had decreased risk of pa... BeFree 18544627 Detail
0.003 meningioma Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
<0.001 Carcinoma of lung For subgroup of lung cancer, A allele of ERCC4 rs1800067 A/G polymorphism was si... BeFree 25292041 Detail
<0.001 Meningioma, benign, no ICD-O subtype Significantly increased meningioma risk was also observed for the minor allele v... BeFree 20150366 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) AND not specified ClinVar Detail
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) AND Xeroderma pigmentosum, group F ClinVar Detail
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) AND not provided ClinVar Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a ... DisGeNET Detail
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a ... DisGeNET Detail
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a ... DisGeNET Detail
Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a ... DisGeNET Detail
Variant alleles of XRCC1 Arg(194)Trp (rs1799782) and ERCC4 Arg(415)Gln (rs1800067) were significantl... DisGeNET Detail
For subgroup of lung cancer, A allele of ERCC4 rs1800067 A/G polymorphism was significantly associat... DisGeNET Detail
To investigate whether monoallelic ERCC4 gene defects play some role in the inherited component of b... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
To investigate whether monoallelic ERCC4 gene defects play some role in the inherited component of b... DisGeNET Detail
Carriers of one or two XPF/ERCC4 minor alleles at R415Q had decreased risk of pancreatic adenocarcin... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... DisGeNET Detail
For subgroup of lung cancer, A allele of ERCC4 rs1800067 A/G polymorphism was significantly associat... DisGeNET Detail
Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1... 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
rs1800067 dbSNP
Genome
hg19
Position
chr16:14,029,033-14,029,033
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1592858798979828E-4
Chromosome Counts in All Race (ExAC)
120994
Allele Counts in All Race (ExAC)
6739
Heterozygous Counts in All Race (ExAC)
6179
Homozygous Counts in All Race (ExAC)
280
Allele Frequency in All Race (ExAC)
0.055696976709588904
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