NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 21, 2022
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:: RCV002512605.3

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003680248	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Apr 21, 2022)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 1967768, 12205126, 12417303, 15880727, 18188031, 18541450, 26937407 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003680248

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Apr 21, 2022)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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

Molecular analysis of aldolase B genes in hereditary fructose intolerance.

Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G, et al.

Lancet. 1990 Feb 10;335(8685):306-9.

PubMed [citation]

PMID:: 1967768

Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.

Sánchez-Gutiérrez JC, Benlloch T, Leal MA, Samper B, García-Ripoll I, Felíu JE.

J Med Genet. 2002 Sep;39(9):e56. No abstract available.

PubMed [citation]

PMID:: 12205126
PMCID:: PMC1735221

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV003680248.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

The c.524C>A (p.A175D) alteration is located in exon 5 (coding exon 4) of the ALDOB gene. This alteration results from a C to A substitution at nucleotide position 524, causing the alanine (A) at amino acid position 175 to be replaced by an aspartic acid (D). Based on data from gnomAD, the A allele has an overall frequency of 0.04% (99/282292) total alleles studied. The highest observed frequency was 0.16% (17/10362) of Ashkenazi Jewish alleles. This alteration has been reported in multiple unrelated patients with hereditary fructose intolerance and is one of the most common mutations in the U.S. and Europe (Cross, 1990; Sánchez-Gutiérrez, 2002; Santer, 2005; Caciotti, 2008; Davit-Spraul, 2008; Valadares, 2015). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is 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: Oct 8, 2024

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