NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs) AND 2-aminoadipic 2-oxoadipic aciduria

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 21, 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:: RCV003528451.2

Allele description [Variation Report for NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)]

NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)

Genes:

LOC130003343:ATAC-STARR-seq lymphoblastoid silent region 2137 [Gene]
DHTKD1:dehydrogenase E1 and transketolase domain containing 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10p14

Genomic location:

Preferred name:

NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)

HGVS:

NC_000010.11:g.12069112_12069161del
NG_033248.1:g.5196_5245del
NG_033248.2:g.5160_5209del
NM_018706.7:c.79_128delMANE SELECT
NP_061176.4:p.Glu27fs
NC_000010.10:g.12111109_12111158del
NC_000010.10:g.12111111_12111160del
NM_018706.6:c.79_128del

Protein change:

E27fs

Molecular consequence:

NM_018706.7:c.79_128del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: 2-aminoadipic 2-oxoadipic aciduria (AAKAD)
Synonyms:: Aminoadipic aciduria; ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA
Identifiers:: MONDO: MONDO:0008774; MedGen: C1859817; Orphanet: 79154; OMIM: 204750

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004309421	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 21, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23141293, 25860818, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004309421

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 21, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S.

Am J Hum Genet. 2012 Dec 7;91(6):1082-7. doi: 10.1016/j.ajhg.2012.10.006. Epub 2012 Nov 8.

PubMed [citation]

PMID:: 23141293
PMCID:: PMC3516599

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM.

J Inherit Metab Dis. 2015 Sep;38(5):873-9. doi: 10.1007/s10545-015-9841-9. Epub 2015 Apr 10.

PubMed [citation]

PMID:: 25860818

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004309421.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu27Profs*10) in the DHTKD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DHTKD1 are known to be pathogenic (PMID: 23141293, 25860818). This variant is present in population databases (rs779758367, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2504734). For these reasons, this variant has been classified as Pathogenic.

#	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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