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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000055766	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]
SCV000090815	UniProtKB/Swiss-Prot	no classification provided	not provided	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000055766

GeneReviews

no classification provided

not provided

unknown

literature only

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

SCV000090815

UniProtKB/Swiss-Prot

no classification provided

not provided

germline

not provided

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature 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, Bean LJH, Gripp KW, 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

From UniProtKB/Swiss-Prot, SCV000090815.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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