NM_006502.2(POLH):c.1766A>C (p.Lys589Thr) AND Xeroderma pigmentosum, variant type

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2000)

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:
RCV000006253.2

Allele description [Variation Report for NM_006502.2(POLH):c.1766A>C (p.Lys589Thr)]

NM_006502.2(POLH):c.1766A>C (p.Lys589Thr)

Gene:
POLH:DNA polymerase eta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_006502.2(POLH):c.1766A>C (p.Lys589Thr)
HGVS:
  • NC_000006.12:g.43614181A>C
  • NG_009252.1:g.43041A>C
  • NM_001291970.1:c.*450A>C
  • NM_006502.2:c.1766A>C
  • NP_006493.1:p.Lys589Thr
  • LRG_470t1:c.1766A>C
  • LRG_470:g.43041A>C
  • LRG_470p1:p.Lys589Thr
  • NC_000006.11:g.43581918A>C
  • Q9Y253:p.Lys589Thr
Protein change:
K589T; LYS589THR
Links:
UniProtKB: Q9Y253#VAR_021236; OMIM: 603968.0013; dbSNP: 121908565
NCBI 1000 Genomes Browser:
rs121908565
Allele Frequency:
NaN
Molecular consequence:
  • NM_001291970.1:c.*450A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_006502.2:c.1766A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Xeroderma pigmentosum, variant type (XPV)
Identifiers:
MedGen: C1848410; Orphanet: 90342; OMIM: 278750
Age of onset:
Adolescent
Prevalence:
<1 / 1 000 000 90342

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026435OMIMno assertion criteria providedPathogenic
(Dec 1, 2000)
germlineliterature only

PubMed (2)
[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 variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.

Itoh T, Linn S, Kamide R, Tokushige H, Katori N, Hosaka Y, Yamaizumi M.

J Invest Dermatol. 2000 Dec;115(6):981-5.

PubMed [citation]
PMID:
11121129

Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta.

Yamada A, Masutani C, Iwai S, Hanaoka F.

Nucleic Acids Res. 2000 Jul 1;28(13):2473-80.

PubMed [citation]
PMID:
10871396
PMCID:
PMC102698

Details of each submission

From OMIM, SCV000026435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a Japanese patient with XPV (278750) and 1 parent, Itoh et al. (2000) identified an A-C transversion at nucleotide 2003 of the POLH cDNA, which resulted in a lys589-to-thr (K589T) missense mutation. This basic lysine residue is conserved between human and mouse (Yamada et al., 2000). The lys589-to-thr mutation likely affects the conformation and functionality of the DNA polymerase.

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

Last Updated: Feb 3, 2017