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NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) AND Dyskeratosis congenita, X-linked

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000032206.3

Allele description [Variation Report for NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)]

NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)

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.941A>G (p.Lys314Arg)
HGVS:
  • NC_000023.11:g.154770784A>G
  • NG_009780.1:g.13029A>G
  • NM_001142463.3:c.941A>G
  • NM_001288747.2:c.941A>G
  • NM_001363.5:c.941A>GMANE SELECT
  • NP_001135935.1:p.Lys314Arg
  • NP_001275676.1:p.Lys314Arg
  • NP_001354.1:p.Lys314Arg
  • LRG_55t1:c.941A>G
  • LRG_55:g.13029A>G
  • NC_000023.10:g.153999059A>G
  • NM_001363.3:c.941A>G
  • NR_110021.2:n.1520A>G
  • NR_110022.2:n.1639A>G
  • NR_110023.2:n.1413A>G
Protein change:
K314R
Links:
dbSNP: rs199422248
NCBI 1000 Genomes Browser:
rs199422248
Molecular consequence:
  • NM_001142463.3:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288747.2:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363.5:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110021.2:n.1520A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110022.2:n.1639A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110023.2:n.1413A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dyskeratosis congenita, X-linked (DKCX)
Synonyms:
Zinsser-Cole-Engman Syndrome
Identifiers:
MONDO: MONDO:0010584; MedGen: C1148551; OMIM: 305000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055799GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Dyskeratosis Congenita and Related Telomere Biology Disorders.

Savage SA, Niewisch MR.

2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301779

Details of each submission

From GeneReviews, SCV000055799.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 8, 2022