U.S. flag

An official website of the United States government

NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) AND Dyskeratosis congenita, X-linked

Germline classification:
not provided (2 submissions)
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:
RCV000032182.4

Allele description [Variation Report for NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)]

NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)

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.1049T>C (p.Met350Thr)
HGVS:
  • NC_000023.11:g.154773143T>C
  • NG_009780.1:g.15388T>C
  • NM_001142463.3:c.1049T>C
  • NM_001288747.2:c.1049T>C
  • NM_001363.5:c.1049T>CMANE SELECT
  • NP_001135935.1:p.Met350Thr
  • NP_001275676.1:p.Met350Thr
  • NP_001354.1:p.Met350Thr
  • LRG_55t1:c.1049T>C
  • LRG_55:g.15388T>C
  • NC_000023.10:g.154001418T>C
  • NM_001363.3:c.1049T>C
  • NR_110021.2:n.1628T>C
  • NR_110022.2:n.1747T>C
  • NR_110023.2:n.1521T>C
  • O60832:p.Met350Thr
Protein change:
M350T
Links:
UniProtKB: O60832#VAR_010083; UniProtKB/Swiss-Prot: VAR_010083; dbSNP: rs121912300
NCBI 1000 Genomes Browser:
rs121912300
Molecular consequence:
  • NM_001142463.3:c.1049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288747.2:c.1049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363.5:c.1049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110021.2:n.1628T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110022.2:n.1747T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110023.2:n.1521T>C - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055766GeneReviews
no classification provided
not providedunknownliterature only

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

SCV000090815UniProtKB/Swiss-Prot
no classification provided
not providedgermlinenot provided

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
not providedgermlinenot providednot providednot providednot provided1not 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

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A.

Am J Hum Genet. 1999 Jul;65(1):50-8.

PubMed [citation]
PMID:
10364516
PMCID:
PMC1378074

Details of each submission

From GeneReviews, SCV000055766.2

#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

From UniProtKB/Swiss-Prot, SCV000090815.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2022