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NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg) AND 2-aminoadipic 2-oxoadipic aciduria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 9, 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:
RCV003528939.2

Allele description [Variation Report for NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg)]

NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg)

Gene:
DHTKD1:dehydrogenase E1 and transketolase domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p14
Genomic location:
Preferred name:
NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg)
HGVS:
  • NC_000010.11:g.12069035T>G
  • NG_033248.1:g.5119T>G
  • NM_018706.7:c.2T>GMANE SELECT
  • NP_061176.4:p.Met1Arg
  • NC_000010.10:g.12111034T>G
Protein change:
M1R
Links:
dbSNP: rs760903542
NCBI 1000 Genomes Browser:
rs760903542
Molecular consequence:
  • NM_018706.7:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_018706.7:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004260056Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Oct 9, 2023)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004260056.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change affects the initiator methionine of the DHTKD1 mRNA. The next in-frame methionine is located at codon 108. This variant is present in population databases (rs760903542, gnomAD 0.003%). Disruption of the initiator codon has been observed in individual(s) with 2-aminoadipic 2-oxoadipic aciduria (PMID: 23141293). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024