chr19:45855507:G>C Detail (hg19) (ERCC2)

Information

Genome

Assembly Position
hg19 chr19:45,855,507-45,855,507
hg38 chr19:45,352,249-45,352,249 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000400.3:c.2150C>G NP_000391.1:p.Ala717Gly
Ensemble ENST00000391944.8:c.2150C>G ENST00000391944.8:p.Ala717Gly
ENST00000391945.10:c.2150C>G ENST00000391945.10:p.Ala717Gly
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 Conflicting classifications of pathogenicity
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
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
Pathogenic Likely pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2016-01-20 criteria provided, single submitter Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified germline Detail
Pathogenic 2019-01-09 criteria provided, single submitter ERCC2-related disorder germline Detail
Conflicting interpretations of pathogenicity 2023-03-30 criteria provided, conflicting interpretations Xeroderma pigmentosum, group D germline unknown Detail
Pathogenic 2020-04-27 criteria provided, single submitter Trichothiodystrophy 1, photosensitive unknown Detail
Pathogenic 2022-03-15 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-01-04 criteria provided, single submitter xeroderma pigmentosum germline Detail
Pathogenic 2023-01-04 criteria provided, single submitter xeroderma pigmentosum germline Detail
Pathogenic 2023-10-26 criteria provided, single submitter cerebrooculofacioskeletal syndrome 2 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND not specified ClinVar Detail
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND not provided ClinVar Detail
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherw... ClinVar Detail
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND ERCC2-related disorder ClinVar Detail
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND Xeroderma pigmentosum, group D ClinVar Detail
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND Trichothiodystrophy 1, photosensitive ClinVar Detail
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND Inborn genetic diseases ClinVar Detail
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND Xeroderma pigmentosum ClinVar Detail
NM_000400.4(ERCC2):c.[1381C>G;2150C>G] AND Xeroderma pigmentosum ClinVar Detail
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) AND Cerebrooculofacioskeletal syndrome 2 ClinVar 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
rs144564120 dbSNP
Genome
hg19
Position
chr19:45,855,507-45,855,507
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120606
Allele Counts in All Race (ExAC)
42
Heterozygous Counts in All Race (ExAC)
42
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.482413810258196E-4
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