NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)

NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)

Variant type:
single nucleotide variant
Cytogenetic location:
5p15.3
Genomic location:
  • Chr5:1264656 (on Assembly GRCh37)
  • Chr5:1264541 (on Assembly GRCh38)
Protein change:
K902N
HGVS:
  • NG_009265.1:g.35507G>C
  • NM_001193376.1:c.2654+1923G>C
  • NM_198253.2:c.2706G>C
  • NC_000005.10:g.1264541C>G
  • NC_000005.9:g.1264656C>G
  • NP_937983.2:p.Lys902Asn
  • LRG_343p1:p.Lys902Asn
  • LRG_343t1:c.2706G>C
  • LRG_343:g.35507G>C
Links:
NCBI 1000 Genomes Browser:
rs121918665
Molecular consequence:
  • NM_001193376.1:c.2654+1923G>C: intron SO:0001627
  • NM_198253.2:c.2706G>C: missense variant SO:0001583

Clinical significance

NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
(2/4)2 stars out of maximum of 4 stars
classified by multiple submitters
Number of submission(s):
2
Condition(s)
See supporting ClinVar records

Recent Activity

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
(Oct 1, 2013)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Dec 30, 2010)
SCV000033819
Pathogenic
(May 10, 2012)
classified by single submitter
(literature only)
literature onlynot providedPubMed (1)
GeneReviews
(Jan 8, 2013)
SCV000056045

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermline, not providednot providednot provided

GeneReviews

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providednot provided

Description

not provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In all 6 affected members of a 3-generation family with autosomal dominant dyskeratosis congenita-2 (613989), Armanios et al. (2005) identified heterozygosity for a G-to-C transversion in exon 11 of the TERT gene, resulting in a lys902-to-asn (K902N) substitution in a highly conserved residue. In vitro functional expression studies showed that the K902N mutant protein had almost no telomerase activity, resulting in haploinsufficiency.

Last Updated: Aug 5, 2014

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