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NM_000035.4(ALDOB):c.325-1G>A AND Hereditary fructosuria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 25, 2018
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:
RCV000674247.1

Allele description [Variation Report for NM_000035.4(ALDOB):c.325-1G>A]

NM_000035.4(ALDOB):c.325-1G>A

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.325-1G>A
HGVS:
  • NC_000009.12:g.101428524C>T
  • NG_012387.1:g.12257G>A
  • NM_000035.4:c.325-1G>AMANE SELECT
  • LRG_1244t1:c.325-1G>A
  • LRG_1244:g.12257G>A
  • NC_000009.11:g.104190806C>T
  • NM_000035.3:c.325-1G>A
Links:
dbSNP: rs1402966846
NCBI 1000 Genomes Browser:
rs1402966846
Molecular consequence:
  • NM_000035.4:c.325-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000799551Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Apr 25, 2018) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000799551.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023