NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) AND ALDOB-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 9, 2024
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:: RCV003952332.2

Allele description [Variation Report for NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)]

NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)

Gene:

ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.1

Genomic location:

Preferred name:

NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)

HGVS:

NC_000009.12:g.101427498G>T
NG_012387.1:g.13283C>A
NM_000035.4:c.524C>AMANE SELECT
NP_000026.2:p.Ala175Asp
LRG_1244t1:c.524C>A
LRG_1244:g.13283C>A
LRG_1244p1:p.Ala175Asp
NC_000009.11:g.104189780G>T
NM_000035.3:c.524C>A
NP_000026.2:p.A175D
P05062:p.Ala175Asp

Protein change:

A175D; ALA174ASP

Links:

UniProtKB: P05062#VAR_000554; OMIM: 612724.0002; dbSNP: rs76917243

NCBI 1000 Genomes Browser:

rs76917243

Molecular consequence:

NM_000035.4:c.524C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: ALDOB-related disorder
Synonyms:: ALDOB-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004769074	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Feb 9, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004769074

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Feb 9, 2024)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004769074.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The ALDOB c.524C>A variant is predicted to result in the amino acid substitution p.Ala175Asp. This variant has been reported to be one of the most common causative variants for hereditary fructose intolerance (for example see: Cross and Cox. 1990. PubMed ID: 2349937; Santer et al. 2005. PubMed ID: 15880727; Davit-Spraul et al. 2008. PubMed ID: 18541450; Valadares et al. 2015. PubMed ID: 26937407). Note, this variant is also referred to as A174D in some literature. This variant is reported in 0.16% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. This variant is interpreted 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: Oct 8, 2024

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