NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) AND Xeroderma pigmentosum, group G

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018045.29

Allele description [Variation Report for NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr)]

NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr)

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_000123.3(ERCC5):c.2620G>A (p.Ala874Thr)
HGVS:
  • NC_000013.11:g.102868199G>A
  • NG_007146.1:g.27376G>A
  • NM_000123.3:c.2620G>A
  • NP_000114.2:p.Ala874Thr
  • LRG_464t1:c.2620G>A
  • LRG_464:g.27376G>A
  • LRG_464p1:p.Ala874Thr
  • NC_000013.10:g.103520549G>A
  • P28715:p.Ala874Thr
Protein change:
A874T; ALA874THR
Links:
UniProtKB: P28715#VAR_017096; OMIM: 133530.0012; dbSNP: 121434576
NCBI 1000 Genomes Browser:
rs121434576
Allele Frequency:
NaN, GO-ESP
Molecular consequence:
  • NM_000123.3:c.2620G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Xeroderma pigmentosum, group G (XPG)
Synonyms:
XP, GROUP G; Xeroderma pigmentosum type 7
Identifiers:
MedGen: C0268141; OMIM: 278780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038324OMIMno assertion criteria providedPathogenic
(Jun 1, 2002)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH.

J Invest Dermatol. 2002 Jun;118(6):972-82. Erratum in: J Invest Dermatol. 2003 Jan;120(1):173..

PubMed [citation]
PMID:
12060391

Details of each submission

From OMIM, SCV000038324.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Emmert et al. (2002) reported a mildly affected 14-year-old Caucasian female with xeroderma pigmentosum complementation group G (XPG; 278780) who was compound heterozygous for 2 mutations in the ERCC5 gene: an early stop codon (Q136X; 133530.0013) and a 2817G-A transition resulting in an ala874-to-thr (A874T) substitution. The A874T mutant protein showed residual ability to complement XPG cells in vitro. The observations agreed with earlier studies demonstrating that XPG patients who retain residual functional activity in 1 allele can have mild clinical features without neurologic abnormalities. The patient had sun sensitivity but no neurologic abnormalities.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 14, 2017