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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002998742Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Sep 4, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024