NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) AND Dyskeratosis congenita, X-linked

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 1, 1998
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000012341.24

Allele description [Variation Report for NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)]

NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)

Gene:

DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)

HGVS:

NC_000023.11:g.154765949_154765950delinsTA
NG_009780.1:g.8194_8195delinsTA
NM_001142463.3:c.214_215delinsTA
NM_001288747.2:c.214_215delinsTA
NM_001363.5:c.214_215delinsTAMANE SELECT
NP_001135935.1:p.Leu72Tyr
NP_001275676.1:p.Leu72Tyr
NP_001354.1:p.Leu72Tyr
LRG_55:g.8194_8195delinsTA
NC_000023.10:g.153994224_153994225delinsTA
NR_110021.2:n.793_794delinsTA
NR_110022.2:n.316_317delinsTA
NR_110023.2:n.316_317delinsTA

Protein change:

L72Y; LEU72TYR

Links:

UniProtKB/Swiss-Prot: VAR_006814; OMIM: 300126.0004; dbSNP: rs121912294

NCBI 1000 Genomes Browser:

rs121912294

Molecular consequence:

NM_001142463.3:c.214_215delinsTA - missense variant - [Sequence Ontology: SO:0001583]
NM_001288747.2:c.214_215delinsTA - missense variant - [Sequence Ontology: SO:0001583]
NM_001363.5:c.214_215delinsTA - missense variant - [Sequence Ontology: SO:0001583]
NR_110021.2:n.793_794delinsTA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110022.2:n.316_317delinsTA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110023.2:n.316_317delinsTA - 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
SCV000032575	OMIM	no assertion criteria provided	Pathogenic (May 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000090831	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

SCV000032575

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1998)

germline

literature only

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

SCV000090831

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	germline	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I.

Nat Genet. 1998 May;19(1):32-8.

PubMed [citation]

PMID:: 9590285

Details of each submission

From OMIM, SCV000032575.2

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

Description

In a patient with dyskeratosis congenita (DKCX; 305000), Heiss et al. (1998) identified a leu72-to-tyr (L72Y) mutation resulting from a change of nucleotides 306 and 307 from CT to TA.

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

From UniProtKB/Swiss-Prot, SCV000090831.1

#	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: Sep 8, 2024

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