chr16:13934224:C>T Detail (hg38) (ERCC4)

Information

Genome

Assembly Position
hg19 chr16:14,028,081-14,028,081 View the variant detail on this assembly version.
hg38 chr16:13,934,224-13,934,224

HGVS

Type Transcript Protein
RefSeq NM_005236.2:c.1135C>T NP_005227.1:p.Pro379Ser
Ensemble ENST00000311895.8:c.1135C>T ENST00000311895.8:p.Pro379Ser
ENST00000682617.1:c.1273C>T ENST00000682617.1:p.Pro425Ser
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 133520 OMIM
HGNC 3436 HGNC
Ensembl ENSG00000175595 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv394342261 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2022-03-08 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline Detail
Benign 2024-01-28 criteria provided, single submitter Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q,Cockayne syndrome germline Detail
Benign 2024-01-28 criteria provided, single submitter Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q,Cockayne syndrome germline Detail
Benign 2024-01-28 criteria provided, single submitter Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q,Cockayne syndrome germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Xeroderma pigmentosum, group F germline Detail
Likely benign 2020-11-11 criteria provided, single submitter xeroderma pigmentosum germline Detail
Likely benign 2022-08-23 criteria provided, single submitter XFE progeroid syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
Likely benign 2022-08-23 criteria provided, single submitter XFE progeroid syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
Likely benign 2022-08-23 criteria provided, single submitter XFE progeroid syndrome,Xeroderma pigmentosum, group F,Fanconi anemia complementation group Q germline Detail
Likely benign 2019-04-25 criteria provided, single submitter ERCC4-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Non-small cell lung carcinoma The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... BeFree 11285194 Detail
0.012 Non-small cell lung carcinoma The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... BeFree 11285194 Detail
0.005 Non-small cell lung carcinoma The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... BeFree 11285194 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND not specified ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND not provided ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND Xeroderma pigmentosum, group F ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND Xeroderma pigmentosum ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND multiple conditions ClinVar Detail
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND ERCC4-related disorder ClinVar Detail
The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... DisGeNET Detail
The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... DisGeNET Detail
The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... 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
rs1799802 dbSNP
Genome
hg38
Position
chr16:13,934,224-13,934,224
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8572
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)
119924
Allele Counts in All Race (ExAC)
452
Heterozygous Counts in All Race (ExAC)
450
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0037690537340315535
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