NM_000035.4(ALDOB):c.345_372del (p.Leu116fs) AND Hereditary fructosuria

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 18, 2021
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:: RCV001376718.1

Allele description [Variation Report for NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)]

NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)

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.345_372del (p.Leu116fs)

HGVS:

NC_000009.12:g.101428478_101428505del
NG_012387.1:g.12278_12305del
NM_000035.4:c.345_372delMANE SELECT
NP_000026.2:p.Leu116fs
LRG_1244t1:c.345_372del
LRG_1244:g.12278_12305del
LRG_1244p1:p.Leu116fs
NC_000009.11:g.104190760_104190787del

Protein change:

L116fs

Links:

dbSNP: rs2118358456

NCBI 1000 Genomes Browser:

rs2118358456

Molecular consequence:

NM_000035.4:c.345_372del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001573866	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]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001573866

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]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R.

Hum Mutat. 2005 Jun;25(6):594.

PubMed [citation]

PMID:: 15880727

Details of each submission

From ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul, SCV001573866.1

#	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

Last Updated: Dec 24, 2023

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