chr16:14028081:C>T Detail (hg19) (ERCC4)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

ERCC4

Type	Transcript	Protein
RefSeq	NM_005236.2:c.1135C>T	NP_005227.1:p.Pro379Ser
Ensemble	ENST00000682617.1:c.1273C>T	ENST00000682617.1:p.Pro425Ser
	ENST00000311895.8:c.1135C>T	ENST00000311895.8:p.Pro379Ser

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

ERCC4

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	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

Descrption	Source	Links
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: hg19
Position: chr16:14,028,081-14,028,081
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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