NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser) AND DK1-congenital disorder of glycosylation

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2007
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:: RCV000001191.3

Allele description [Variation Report for NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser)]

NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser)

Gene:

DOLK:dolichol kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser)

HGVS:

NC_000009.12:g.128945982T>G
NG_017009.1:g.6752A>C
NG_033111.1:g.3290T>G
NM_014908.4:c.1322A>CMANE SELECT
NP_055723.1:p.Tyr441Ser
LRG_744:g.6752A>C
NC_000009.11:g.131708261T>G
Q9UPQ8:p.Tyr441Ser

Protein change:

Y441S; TYR441SER

Links:

UniProtKB: Q9UPQ8#VAR_032852; OMIM: 610746.0002; dbSNP: rs137853110

NCBI 1000 Genomes Browser:

rs137853110

Molecular consequence:

NM_014908.4:c.1322A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: DK1-congenital disorder of glycosylation
Synonyms:: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG Im; DK1 DEFICIENCY; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012556; MedGen: C1835849; Orphanet: 91131; OMIM: 610768

Recent activity

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shaggy-related protein kinase kappa isoform X1 [Benincasa hispida]
shaggy-related protein kinase kappa isoform X1 [Benincasa hispida]
gi|1955848886|ref|XP_038882502.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021341	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021341

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2007)

germline

literature only

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

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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	not provided	not provided	literature only

Citations

PubMed

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.

Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T.

Am J Hum Genet. 2007 Mar;80(3):433-40. Epub 2007 Jan 31.

PubMed [citation]

PMID:: 17273964
PMCID:: PMC1821118

Details of each submission

From OMIM, SCV000021341.2

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

Description

In 2 affected sibs in a consanguineous Turkish family, Kranz et al. (2007) demonstrated that congenital disorder of glycosylation type Im (CDG1M; 610768) was caused by homozygosity for a 1322A-C transversion in the DOLK gene, resulting in a tyr441-to-ser (Y441S) substitution.

#	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

Last Updated: Mar 18, 2023

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