U.S. flag

An official website of the United States government

NM_003647.3(DGKE):c.1A>T (p.Met1Leu) AND Atypical hemolytic-uremic syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 24, 2017
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:
RCV001328196.1

Allele description [Variation Report for NM_003647.3(DGKE):c.1A>T (p.Met1Leu)]

NM_003647.3(DGKE):c.1A>T (p.Met1Leu)

Gene:
DGKE:diacylglycerol kinase epsilon [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_003647.3(DGKE):c.1A>T (p.Met1Leu)
HGVS:
  • NC_000017.11:g.56834796A>T
  • NG_033888.1:g.5698A>T
  • NG_054932.1:g.4195T>A
  • NM_003647.3:c.1A>TMANE SELECT
  • NP_003638.1:p.Met1Leu
  • NC_000017.10:g.54912157A>T
  • NM_003647.2:c.1A>T
Protein change:
M1L
Links:
dbSNP: rs1906465563
NCBI 1000 Genomes Browser:
rs1906465563
Molecular consequence:
  • NM_003647.3:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_003647.3:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Atypical hemolytic-uremic syndrome
Synonyms:
Atypical HUS
Identifiers:
MONDO: MONDO:0016244; MedGen: C2931788

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449314Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Likely pathogenic
(Apr 24, 2017) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449314.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This individual is homozygous for the c.1A>T variant in the DGKE gene. The variant has not been reported in any population databases (i.e. ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any variant databases. This variant abolishes the translational initiation codon of the DGKE gene, and is likely to result in haploinsufficiency. This variant is considered to be likely pathogenic according to ACMG guidelines

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 3, 2023