NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter) AND Hereditary fructosuria

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Aug 26, 2023
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:: RCV001376705.6

Allele description [Variation Report for NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)]

NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)

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.469C>T (p.Gln157Ter)

HGVS:

NC_000009.12:g.101427553G>A
NG_012387.1:g.13228C>T
NM_000035.4:c.469C>TMANE SELECT
NP_000026.2:p.Gln157Ter
LRG_1244t1:c.469C>T
LRG_1244:g.13228C>T
LRG_1244p1:p.Gln157Ter
NC_000009.11:g.104189835G>A

Protein change:

Q157*

Links:

dbSNP: rs1831149748

NCBI 1000 Genomes Browser:

rs1831149748

Molecular consequence:

NM_000035.4:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001573839	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]
SCV003459878	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 8, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18541450, 28492532
SCV004196626	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 26, 2023)	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

SCV001573839

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]

SCV003459878

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 8, 2023)

germline

clinical testing

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

SCV004196626

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 26, 2023)

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

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS.

Am J Hum Genet. 2018 Jun 7;102(6):1078-1089. doi: 10.1016/j.ajhg.2018.04.004. Epub 2018 May 10.

PubMed [citation]

PMID:: 29754767
PMCID:: PMC5992121

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, SCV001573839.1

#	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, SCV003459878.2

#	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. This sequence change creates a premature translational stop signal (p.Gln157*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALDOB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1065851).

#	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, SCV004196626.1

#	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

ClinVar

Relating variation to medicine