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NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) AND Dyskeratosis congenita

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004018615.1

Allele description [Variation Report for NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)]

NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)

Gene:
DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)
HGVS:
  • NC_000023.11:g.154773163A>G
  • NG_009780.1:g.15408A>G
  • NM_001142463.3:c.1069A>G
  • NM_001288747.2:c.1069A>G
  • NM_001363.5:c.1069A>GMANE SELECT
  • NP_001135935.1:p.Thr357Ala
  • NP_001275676.1:p.Thr357Ala
  • NP_001354.1:p.Thr357Ala
  • LRG_55t1:c.1069A>G
  • LRG_55:g.15408A>G
  • NC_000023.10:g.154001438A>G
  • NM_001363.3:c.1069A>G
  • NR_110021.2:n.1648A>G
  • NR_110022.2:n.1767A>G
  • NR_110023.2:n.1541A>G
Protein change:
T357A; THR357ALA
Links:
OMIM: 300126.0014; dbSNP: rs137854492
NCBI 1000 Genomes Browser:
rs137854492
Molecular consequence:
  • NM_001142463.3:c.1069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288747.2:c.1069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363.5:c.1069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110021.2:n.1648A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110022.2:n.1767A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110023.2:n.1541A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dyskeratosis congenita
Identifiers:
MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002721426Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 4, 2019) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.

Li S, Duan J, Li D, Ma S, Ye K.

EMBO J. 2011 Nov 25;30(24):5010-20. doi: 10.1038/emboj.2011.427.

PubMed [citation]
PMID:
22117216
PMCID:
PMC3242979

Details of each submission

From Ambry Genetics, SCV002721426.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.T357A variant (also known as c.1069A>G), located in coding exon 11 of the DKC1 gene, results from an A to G substitution at nucleotide position 1069. The threonine at codon 357 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on internal structural analysis, this variant is anticipated to result in a change in protein-protein interaction. However, it does not disrupt the surface structure itself (Li S et al. EMBO J., 2011 Nov;30:5010-20). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024