NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 31, 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:: RCV000779690.1

Allele description [Variation Report for NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)]

NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)

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.529A>C (p.Ile177Leu)

HGVS:

NC_000009.12:g.101427493T>G
NG_012387.1:g.13288A>C
NM_000035.4:c.529A>CMANE SELECT
NP_000026.2:p.Ile177Leu
LRG_1244t1:c.529A>C
LRG_1244:g.13288A>C
LRG_1244p1:p.Ile177Leu
NC_000009.11:g.104189775T>G
NM_000035.3:c.529A>C

Protein change:

I177L

Links:

dbSNP: rs139442303

NCBI 1000 Genomes Browser:

rs139442303

Molecular consequence:

NM_000035.4:c.529A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000916440	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Aug 31, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000916440

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Aug 31, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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

Citations

PubMed

Plasma metabolomic profiles enhance precision medicine for volunteers of normal health.

Guo L, Milburn MV, Ryals JA, Lonergan SC, Mitchell MW, Wulff JE, Alexander DC, Evans AM, Bridgewater B, Miller L, Gonzalez-Garay ML, Caskey CT.

Proc Natl Acad Sci U S A. 2015 Sep 1;112(35):E4901-10. doi: 10.1073/pnas.1508425112. Epub 2015 Aug 17.

PubMed [citation]

PMID:: 26283345
PMCID:: PMC4568216

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916440.1

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

Description

Variant summary: ALDOB c.529A>C (p.Ile177Leu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.3e-05 in 276598 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in ALDOB causing Hereditary Fructose Intolerance (8.3e-05 vs 0.0045), allowing no conclusion about variant significance. c.529A>C has been reported in the literature in an individual presenting with an asymptomatic phenotype (Guo_2015). This report does not provide an unequivocal conclusion about association of the variant with Hereditary Fructose Intolerance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Sep 29, 2024

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