NM_000035.4(ALDOB):c.539del (p.Gln180fs) AND Hereditary fructosuria

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 4, 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:: RCV002690142.3

Allele description [Variation Report for NM_000035.4(ALDOB):c.539del (p.Gln180fs)]

NM_000035.4(ALDOB):c.539del (p.Gln180fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

9q31.1

Genomic location:

Preferred name:

NM_000035.4(ALDOB):c.539del (p.Gln180fs)

HGVS:

NC_000009.12:g.101427483del
NG_012387.1:g.13298del
NM_000035.4:c.539delMANE SELECT
NP_000026.2:p.Gln180fs
LRG_1244t1:c.539del
LRG_1244:g.13298del
LRG_1244p1:p.Gln180fs
NC_000009.11:g.104189765del

Protein change:

Q180fs

Molecular consequence:

NM_000035.4:c.539del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary fructosuria
Synonyms:: Hereditary fructose intolerance; Fructose-1-phosphate aldolase deficiency; Aldolase B deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009249; MedGen: C0016751; Orphanet: 469; OMIM: 229600; Human Phenotype Ontology: HP:0005973

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Chain C, Actin-5C
Chain C, Actin-5C
gi|551702010|pdb|4M63|C

Protein
PREDICTED: Cucurbita moschata protein PATRONUS 1-like (LOC111435410), transcript...
PREDICTED: Cucurbita moschata protein PATRONUS 1-like (LOC111435410), transcript variant X2, mRNA
gi|1279760632|ref|XM_023072818.1|

Nucleotide
UNVERIFIED: Rotavirus A isolate VN_3096/G1P4/VP3/M2 genomic sequence
UNVERIFIED: Rotavirus A isolate VN_3096/G1P4/VP3/M2 genomic sequence
gi|1179412787|gb|KY634857.1|

Nucleotide
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Links from autonomous proteins to species level organisms for Protein (Select 1942511956)
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Taxonomy
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Links from autonomous proteins to species level organisms for Protein (Select 648489688)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002998742	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 4, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18541450, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002998742

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 4, 2022)

germline

clinical testing

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

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

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Davit-Spraul A, Costa C, Zater M, Habes D, Berthelot J, Broué P, Feillet F, Bernard O, Labrune P, Baussan C.

Mol Genet Metab. 2008 Aug;94(4):443-447. doi: 10.1016/j.ymgme.2008.05.003. Epub 2008 Jun 9.

PubMed [citation]

PMID:: 18541450

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, SCV002998742.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ALDOB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln180Argfs*12) in the ALDOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450).

#	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: Sep 29, 2024

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