NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND Dyskeratosis congenita, autosomal dominant, 2

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2008)

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:
RCV000022783.20

Allele description [Variation Report for NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)]

NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)

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.1892G>A (p.Arg631Gln)
HGVS:
  • NC_000005.10:g.1280216C>T
  • NG_009265.1:g.19832G>A
  • NM_001193376.2:c.1892G>A
  • NM_198253.2:c.1892G>A
  • NM_198253.3:c.1892G>AMANE SELECT
  • NP_001180305.1:p.Arg631Gln
  • NP_937983.2:p.Arg631Gln
  • NP_937983.2:p.Arg631Gln
  • LRG_343t1:c.1892G>A
  • LRG_343:g.19832G>A
  • LRG_343p1:p.Arg631Gln
  • NC_000005.9:g.1280331C>T
  • NR_149162.2:n.1971G>A
  • NR_149163.2:n.1971G>A
  • O14746:p.Arg631Gln
Protein change:
R631Q; ARG631GLN
Links:
UniProtKB: O14746#VAR_062783; OMIM: 187270.0011; dbSNP: rs199422294
NCBI 1000 Genomes Browser:
rs199422294
Molecular consequence:
  • NM_001193376.2:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.2:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.2:n.1971G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.2:n.1971G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dyskeratosis congenita, autosomal dominant, 2 (DKCA2)
Identifiers:
MONDO: MONDO:0013521; MedGen: C3151443; OMIM: 613989

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044072OMIMno assertion criteria providedPathogenic
(Jun 1, 2008)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.

Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T.

Haematologica. 2008 Jun;93(6):943-4. doi: 10.3324/haematol.12317. Epub 2008 May 6. No abstract available.

PubMed [citation]
PMID:
18460650

Details of each submission

From OMIM, SCV000044072.4

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

Description

In affected members of an Iraqi Jewish family with autosomal dominant dyskeratosis congenita-2 (DKCA2; 613989), Basel-Vanagaite et al. (2008) identified a heterozygous 1892G-A transition in the TERT gene, resulting in an arg631-to-gln (R631Q) substitution in a conserved residue in motif 2 of the RT domain. Affected males presented with thrombocytopenia, and later developed aplastic anemia, premature graying of the hair, and pulmonary and hepatic fibrosis. One patient developed cardiac fibrosis and another developed dilated cardiomyopathy. Anticipation for these features was observed. While all 6 males of the family were severely affected, 2 female mutation carriers had only premature gray hair; however, all mutation carriers had a similar shortening of telomere length.

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

Last Updated: Apr 28, 2021

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