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NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2022
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:
RCV002329338.3

Allele description [Variation Report for NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)]

NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)

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.1178C>T (p.Ser393Phe)
HGVS:
  • NC_000009.12:g.128946126G>A
  • NG_017009.1:g.6608C>T
  • NG_033111.1:g.3434G>A
  • NM_014908.4:c.1178C>TMANE SELECT
  • NP_055723.1:p.Ser393Phe
  • LRG_744t1:c.1178C>T
  • LRG_744:g.6608C>T
  • NC_000009.11:g.131708405G>A
  • NM_014908.3:c.1178C>T
  • NM_014908.4:c.1178C>T
Protein change:
S393F
Links:
dbSNP: rs982668501
NCBI 1000 Genomes Browser:
rs982668501
Molecular consequence:
  • NM_014908.4:c.1178C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002633438Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002633438.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.S393F variant (also known as c.1178C>T), located in coding exon 1 of the DOLK gene, results from a C to T substitution at nucleotide position 1178. The serine at codon 393 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not well 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024