chr13:102861594:A>G Detail (hg38) (ERCC5, BIVM-ERCC5)

Information

Genome

Assembly Position
hg19 chr13:103,513,944-103,513,944 View the variant detail on this assembly version.
hg38 chr13:102,861,594-102,861,594

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000639132.1:c.1435A>G ENST00000639132.1:p.Met479Val
ENST00000639435.1:c.2122A>G ENST00000639435.1:p.Met708Val
Type Transcript Protein
RefSeq
Ensemble ENST00000652225.2:c.760A>G ENST00000652225.2:p.Met254Val
ENST00000652613.1:c.256A>G ENST00000652613.1:p.Met86Val
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
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 43690 HGNC
Ensembl ENSG00000270181 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv280711113 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 133530 OMIM
HGNC 3437 HGNC
Ensembl ENSG00000134899 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv280711113 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2018-01-13 criteria provided, multiple submitters, no conflicts Xeroderma pigmentosum, group G germline Detail
Benign 2024-01-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 breast carcinoma In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.002 Carcinoma of bladder Subjects with the variant genotypes for SNPs in four of the seven genes evaluate... BeFree 16537713 Detail
<0.001 breast carcinoma In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.020 Malignant neoplasm of urinary bladder Subjects with the variant genotypes for SNPs in four of the seven genes evaluate... BeFree 16537713 Detail
0.032 Malignant neoplasm of breast In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.019 Malignant neoplasm of urinary bladder Subjects with the variant genotypes for SNPs in four of the seven genes evaluate... BeFree 16537713 Detail
0.010 Malignant neoplasm of breast In a nested case-control study of breast cancer in US radiologic technologists e... BeFree 18767034 Detail
0.005 Carcinoma of bladder Subjects with the variant genotypes for SNPs in four of the seven genes evaluate... BeFree 16537713 Detail
0.001 Carcinoma of bladder Subjects with the variant genotypes for SNPs in four of the seven genes evaluate... BeFree 16537713 Detail
0.084 Malignant neoplasm of urinary bladder Subjects with the variant genotypes for SNPs in four of the seven genes evaluate... BeFree 16537713 Detail
<0.001 Carcinoma of bladder Subjects with the variant genotypes for SNPs in four of the seven genes evaluate... BeFree 16537713 Detail
0.010 Malignant neoplasm of urinary bladder Subjects with the variant genotypes for SNPs in four of the seven genes evaluate... BeFree 16537713 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) AND not specified ClinVar Detail
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) AND Xeroderma pigmentosum, group G ClinVar Detail
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) AND not provided ClinVar Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
Subjects with the variant genotypes for SNPs in four of the seven genes evaluated had small increase... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
Subjects with the variant genotypes for SNPs in four of the seven genes evaluated had small increase... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
Subjects with the variant genotypes for SNPs in four of the seven genes evaluated had small increase... DisGeNET Detail
In a nested case-control study of breast cancer in US radiologic technologists exposed to low levels... DisGeNET Detail
Subjects with the variant genotypes for SNPs in four of the seven genes evaluated had small increase... DisGeNET Detail
Subjects with the variant genotypes for SNPs in four of the seven genes evaluated had small increase... DisGeNET Detail
Subjects with the variant genotypes for SNPs in four of the seven genes evaluated had small increase... DisGeNET Detail
Subjects with the variant genotypes for SNPs in four of the seven genes evaluated had small increase... DisGeNET Detail
Subjects with the variant genotypes for SNPs in four of the seven genes evaluated had small increase... 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
rs1047769 dbSNP
Genome
hg38
Position
chr13:102,861,594-102,861,594
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.6253469010175765E-4
Chromosome Counts in All Race (ExAC)
121340
Allele Counts in All Race (ExAC)
3564
Heterozygous Counts in All Race (ExAC)
3392
Homozygous Counts in All Race (ExAC)
86
Allele Frequency in All Race (ExAC)
0.029372012526784244
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