NM_000035.4(ALDOB):c.761dup (p.Thr255fs) AND Hereditary fructosuria

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Mar 25, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001376725.9

Allele description [Variation Report for NM_000035.4(ALDOB):c.761dup (p.Thr255fs)]

NM_000035.4(ALDOB):c.761dup (p.Thr255fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

9q31.1

Genomic location:

Preferred name:

NM_000035.4(ALDOB):c.761dup (p.Thr255fs)

HGVS:

NC_000009.12:g.101425491dup
NG_012387.1:g.15290dup
NM_000035.4:c.761dupMANE SELECT
NP_000026.2:p.Thr255fs
LRG_1244t1:c.761dup
LRG_1244:g.15290dup
LRG_1244p1:p.Thr255fs
NC_000009.11:g.104187772_104187773insA
NC_000009.11:g.104187773dup

Protein change:

T255fs

Links:

dbSNP: rs2118345550

NCBI 1000 Genomes Browser:

rs2118345550

Molecular consequence:

NM_000035.4:c.761dup - 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

Recent activity

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guanine nucleotide-binding protein-like 1 [Rattus norvegicus]
guanine nucleotide-binding protein-like 1 [Rattus norvegicus]
gi|47059187|ref|NP_997665.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001573876	ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	no assertion criteria provided	Likely pathogenic (Mar 18, 2021)	unknown	literature only	PubMed (1) [See all records that cite this PMID]
SCV002247212	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 18, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22375183, 18541450, 28492532
SCV005060273	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 25, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001573876

ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul

no assertion criteria provided

Likely pathogenic
(Mar 18, 2021)

unknown

literature only

PubMed (1)
[See all records that cite this PMID]

SCV002247212

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 18, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV005060273

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 25, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance.

Choi HW, Lee YJ, Oh SH, Kim KM, Ryu JM, Lee BH, Kim GH, Yoo HW.

Gut Liver. 2012 Jan;6(1):126-8. doi: 10.5009/gnl.2012.6.1.126. Epub 2012 Jan 12.

PubMed [citation]

PMID:: 22375183
PMCID:: PMC3286731

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

See all PubMed Citations (4)

Details of each submission

From ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul, SCV001573876.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002247212.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1065871). This variant is also known as p.Val253fsX24. This premature translational stop signal has been observed in individual(s) with clinical features of hereditary fructose intolerance (PMID: 22375183). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr255Asnfs*23) 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

From Baylor Genetics, SCV005060273.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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