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

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

Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
  • Chr6:43614181 (on Assembly GRCh38)
  • Chr6:43581918 (on Assembly GRCh37)
Protein change:
K589T
HGVS:
  • NG_009252.1:g.43041A>C
  • NM_006502.2:c.1766A>C
  • NC_000006.12:g.43614181A>C (GRCh38)
  • NC_000006.11:g.43581918A>C (GRCh37)
  • NP_006493.1:p.Lys589Thr
  • LRG_470p1:p.Lys589Thr
  • LRG_470t1:c.1766A>C
  • LRG_470:g.43041A>C
Links:
NCBI 1000 Genomes Browser:
rs121908565
Molecular consequence:
  • NM_001291970.1:c.*450A>C: 3 prime UTR variant SO:0001624
  • NM_006502.2:c.1766A>C: missense variant SO:0001583

Clinical significance

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

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
  • Xeroderma pigmentosum, variant type[MedGen - OMIM]
See supporting ClinVar records

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Sep 4, 2012)
classified by single submitter
(literature only)
literature only
  • Xeroderma pigmentosum, variant type[MedGen | OMIM]
germlinePubMed (2)
OMIM
(Dec 30, 2010)
SCV000026435

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

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.

Last Updated: Feb 27, 2015

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