NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe) AND Hereditary fructosuria

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 4, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001279851.1

Allele description [Variation Report for NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe)]

NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe)

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.187C>T (p.Leu63Phe)

HGVS:

NC_000009.12:g.101429892G>A
NG_012387.1:g.10889C>T
NM_000035.4:c.187C>TMANE SELECT
NP_000026.2:p.Leu63Phe
LRG_1244t1:c.187C>T
LRG_1244:g.10889C>T
LRG_1244p1:p.Leu63Phe
NC_000009.11:g.104192174G>A

Protein change:

L63F

Links:

dbSNP: rs780352710

NCBI 1000 Genomes Browser:

rs780352710

Molecular consequence:

NM_000035.4:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001466984	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 4, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001466984

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 4, 2020)

germline

clinical testing

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

Details of each submission

From Natera, Inc., SCV001466984.1

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

#	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: Jul 29, 2023

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