NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) AND Xeroderma pigmentosum group G/Cockayne syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2001
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000018039.24

Allele description [Variation Report for NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)]

NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)

Genes:

BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.1

Genomic location:

Preferred name:

NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)

HGVS:

NC_000013.11:g.102856110C>T
NG_007146.1:g.15287C>T
NM_000123.4:c.526C>TMANE SELECT
NM_001204425.2:c.1888C>T
NP_000114.2:p.Gln176Ter
NP_000114.3:p.Gln176Ter
NP_001191354.2:p.Gln630Ter
LRG_464t1:c.526C>T
LRG_464:g.15287C>T
LRG_464p1:p.Gln176Ter
NC_000013.10:g.103508460C>T
NM_000123.3:c.526C>T

Protein change:

Q176*; GLN176TER

Links:

OMIM: 133530.0006; dbSNP: rs121434573

NCBI 1000 Genomes Browser:

rs121434573

Molecular consequence:

NM_000123.4:c.526C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001204425.2:c.1888C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Xeroderma pigmentosum group G/Cockayne syndrome (XPG/CS)
Synonyms:: XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME
Identifiers:: MONDO: MONDO:0800314; MedGen: C1968561

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038318	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038318

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2001)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

Zafeiriou DI, Thorel F, Andreou A, Kleijer WJ, Raams A, Garritsen VH, Gombakis N, Jaspers NG, Clarkson SG.

Pediatr Res. 2001 Mar;49(3):407-12.

PubMed [citation]

PMID:: 11228268

Details of each submission

From OMIM, SCV000038318.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with xeroderma pigmentosum complementation group G and neurologic involvement with features of Cockayne syndrome (see 278780) in infancy, Zafeiriou et al. (2001) identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 526C-T transition resulting in a gln176-to-ter (Q176X) substitution, and P72H (133530.0007). Only a minor fraction of ERCC5 mRNA was encoded by the Q176X allele.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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