NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) AND Xeroderma pigmentosum, group G

Clinical significance:Pathogenic (Last evaluated: Feb 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:
RCV000018041.29

Allele description [Variation Report for NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro)]

NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro)

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.2573T>C (p.Leu858Pro)
HGVS:
  • NC_000013.11:g.102868152T>C
  • NG_007146.1:g.27329T>C
  • NM_000123.3:c.2573T>C
  • NP_000114.2:p.Leu858Pro
  • LRG_464t1:c.2573T>C
  • LRG_464:g.27329T>C
  • LRG_464p1:p.Leu858Pro
  • NC_000013.10:g.103520502T>C
  • P28715:p.Leu858Pro
Protein change:
L858P; LEU858PRO
Links:
UniProtKB: P28715#VAR_017097; OMIM: 133530.0008; dbSNP: 121434575
NCBI 1000 Genomes Browser:
rs121434575
Molecular consequence:
  • NM_000123.3:c.2573T>C - 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
SCV000038320OMIMno assertion criteria providedPathogenic
(Feb 1, 2002)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Xeroderma pigmentosum--a unique variant with neurological involvement.

Chessbrough MJ.

Br J Dermatol. 1978 Jul;99(Suppl 16):61. No abstract available.

PubMed [citation]
PMID:
698095

A seventh complementation group in excision-deficient xeroderma pigmentosum.

Keijzer W, Jaspers NG, Abrahams PJ, Taylor AM, Arlett CF, Zelle B, Takebe H, Kinmont PD, Bootsma D.

Mutat Res. 1979 Aug;62(1):183-90.

PubMed [citation]
PMID:
492197
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000038320.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In the first patient reported with xeroderma pigmentosum complementation group G (XPG; 278780) (Cheesbrough, 1978; Keijzer et al., 1979), Lalle et al. (2002) identified compound heterozygosity for 2 mutations in the ERCC5 gene. One allele carried a 2573T-C transition, resulting in a leu858-to-pro (L858P) substitution within the evolutionarily conserved I region that is thought to form part of the XPG endonuclease active site (Constantinou et al., 1999). The other allele carried a 4-bp deletion (133530.0009).

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

Last Updated: May 7, 2017