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NM_000382.3(ALDH3A2):c.1384G>A (p.Glu462Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 15, 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:
RCV003342846.2

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.1384G>A (p.Glu462Lys)]

NM_000382.3(ALDH3A2):c.1384G>A (p.Glu462Lys)

Gene:
ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_000382.3(ALDH3A2):c.1384G>A (p.Glu462Lys)
HGVS:
  • NC_000017.11:g.19671897G>A
  • NG_007095.2:g.28147G>A
  • NM_000382.3:c.1384G>AMANE SELECT
  • NM_001031806.2:c.1384G>A
  • NM_001369136.1:c.1384G>A
  • NM_001369137.2:c.1384G>A
  • NM_001369138.2:c.1384G>A
  • NM_001369139.1:c.1384G>A
  • NM_001369146.2:c.1208-3661G>A
  • NM_001369148.2:c.805G>A
  • NP_000373.1:p.Glu462Lys
  • NP_001026976.1:p.Glu462Lys
  • NP_001356065.1:p.Glu462Lys
  • NP_001356066.1:p.Glu462Lys
  • NP_001356067.1:p.Glu462Lys
  • NP_001356068.1:p.Glu462Lys
  • NP_001356077.1:p.Glu269Lys
  • NC_000017.10:g.19575210G>A
  • NM_000382.2:c.1384G>A
Protein change:
E269K
Molecular consequence:
  • NM_001369146.2:c.1208-3661G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000382.3:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001031806.2:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369136.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369137.2:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369138.2:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369139.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369148.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004065929Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 15, 2023) 		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, SCV004065929.2

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

Description

The c.1384G>A (p.E462K) alteration is located in exon 9 (coding exon 9) of the ALDH3A2 gene. This alteration results from a G to A substitution at nucleotide position 1384, causing the glutamic acid (E) at amino acid position 462 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024