NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 27, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002328890.2

Allele description [Variation Report for NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)]

NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)

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.1166G>A (p.Arg389Gln)

HGVS:

NC_000009.12:g.128946138C>T
NG_017009.1:g.6596G>A
NG_033111.1:g.3446C>T
NM_014908.4:c.1166G>AMANE SELECT
NP_055723.1:p.Arg389Gln
NP_055723.1:p.Arg389Gln
LRG_744t1:c.1166G>A
LRG_744:g.6596G>A
LRG_744p1:p.Arg389Gln
NC_000009.11:g.131708417C>T
NM_014908.3:c.1166G>A

Protein change:

R389Q

Links:

dbSNP: rs201984428

NCBI 1000 Genomes Browser:

rs201984428

Molecular consequence:

NM_014908.4:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Rattus norvegicus glycoprotein m6a (Gpm6a), transcript variant 1, mRNA
Rattus norvegicus glycoprotein m6a (Gpm6a), transcript variant 1, mRNA
gi|2029126777|ref|NM_178105.3|

Nucleotide
Rnf44 ring finger protein 44 [Rattus norvegicus]
Rnf44 ring finger protein 44 [Rattus norvegicus]
Gene ID:361212

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002632043	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002632043

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 27, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002632043.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.R389Q variant (also known as c.1166G>A), located in coding exon 1 of the DOLK gene, results from a G to A substitution at nucleotide position 1166. The arginine at codon 389 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024

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