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NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND Autosomal recessive dyskeratosis congenita 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000022784.32

Allele description [Variation Report for NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)]

NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)

Gene:
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)
HGVS:
  • NC_000005.10:g.1271156G>A
  • NG_009265.1:g.28892C>T
  • NM_001193376.3:c.2431C>T
  • NM_198253.3:c.2431C>TMANE SELECT
  • NP_001180305.1:p.Arg811Cys
  • NP_937983.2:p.Arg811Cys
  • NP_937983.2:p.Arg811Cys
  • LRG_343t1:c.2431C>T
  • LRG_343:g.28892C>T
  • LRG_343p1:p.Arg811Cys
  • NC_000005.9:g.1271271G>A
  • NM_198253.2:c.2431C>T
  • O14746:p.Arg811Cys
Protein change:
R811C; ARG811CYS
Links:
UniProtKB: O14746#VAR_062540; OMIM: 187270.0012; dbSNP: rs199422301
NCBI 1000 Genomes Browser:
rs199422301
Molecular consequence:
  • NM_001193376.3:c.2431C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.2431C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive dyskeratosis congenita 4
Identifiers:
MONDO: MONDO:0027353; MedGen: C3151444

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044073OMIM
no assertion criteria provided
Pathogenic
(Dec 15, 2007) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I.

Blood. 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4.

PubMed [citation]
PMID:
17785587
PMCID:
PMC2882230

Details of each submission

From OMIM, SCV000044073.3

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

Description

In a 13-year-old Libyan girl, born of consanguineous parents, with autosomal recessive dyskeratosis congenita-4 (DKCB4; see 613989), Marrone et al. (2007) identified a homozygous 2431C-T transition in exon 8 of the TERT gene, resulting in an arg811-to-cys (R811C) substitution in the nonconserved region of the RT domain. In vitro functional expression assays showed that the mutant protein had less than 50% residual activity, and there was no evidence of a dominant-negative effect. The patient had poor growth, bone marrow failure, reticulated pigmentation of the skin, leukoplakia, and nail dysplasia. Her parents, who were each heterozygous for the mutation, had mild manifestations, such as dysplastic toenails and hyperpigmented skin.

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

Last Updated: Nov 24, 2024