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NM_000692.5(ALDH1B1):c.1144G>A (p.Ala382Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 18, 2013
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:
RCV000197229.1

Allele description [Variation Report for NM_000692.5(ALDH1B1):c.1144G>A (p.Ala382Thr)]

NM_000692.5(ALDH1B1):c.1144G>A (p.Ala382Thr)

Gene:
ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.1
Genomic location:
Preferred name:
NM_000692.5(ALDH1B1):c.1144G>A (p.Ala382Thr)
Other names:
p.A382T:GCA>ACA
HGVS:
  • NC_000009.12:g.38396892G>A
  • NG_012253.1:g.9188G>A
  • NM_000692.5:c.1144G>AMANE SELECT
  • NP_000683.3:p.Ala382Thr
  • NC_000009.11:g.38396889G>A
  • NM_000692.4:c.1144G>A
Protein change:
A382T
Links:
dbSNP: rs201132163
NCBI 1000 Genomes Browser:
rs201132163
Molecular consequence:
  • NM_000692.5:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000251147GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 18, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000251147.11

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

Description

p.Ala382Thr (GCA>ACA): c.1144 G>A in exon 2 of the ALDH1B1 gene (NM_000692.4). The A382T missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It has been listed in the dbSNP database as a polymorphism (rs201132163), but no frequency information was provided. A382T is a non-conservative amino acid substitution in that a non-polar Alanine residue is replaced by a polar Threonine residue. This change occurs at a highly conserved position in the ALDH1B1 protein, and multiple in-silico analysis programs predict that A382T is damaging to the ALDH1B1 protein. Based on the currently available information, it is unclear whether A382T is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).

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

Last Updated: Dec 24, 2023