chr19:45361744:C>A Detail (hg38) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,865,002-45,865,002 View the variant detail on this assembly version.
hg38 chr19:45,361,744-45,361,744

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.1119-102G>T
NM_001130867.1:c.1047-102G>T
Ensemble ENST00000391944.8:c.1119-102G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.477
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.585

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 126340 OMIM
HGNC 3434 HGNC
Ensembl ENSG00000104884 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62284119 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided 2013-09-19 no assertion provided not specified germline Detail
Benign 2018-11-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.214 Malignant neoplasm of lung From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655... BeFree 18709642 Detail
0.014 Carcinoma of lung From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655... BeFree 18709642 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000400.4(ERCC2):c.1119-102G>T AND not specified ClinVar Detail
NM_000400.4(ERCC2):c.1119-102G>T AND not provided ClinVar Detail
From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655 and LIG1 rs20581) t... DisGeNET Detail
From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655 and LIG1 rs20581) t... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs171140 dbSNP
Genome
hg38
Position
chr19:45,361,744-45,361,744
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs171140
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4769
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7993
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
4270
East Asian Allele Counts (ExAC)
2500
East Asian Heterozygous Counts (ExAC)
1194
East Asian Homozygous Counts (ExAC)
653
East Asian Allele Frequency (ExAC)
0.585480093676815
Chromosome Counts in All Race (ExAC)
69404
Allele Counts in All Race (ExAC)
44432
Heterozygous Counts in All Race (ExAC)
17608
Homozygous Counts in All Race (ExAC)
13412
Allele Frequency in All Race (ExAC)
0.6401936487810501
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