NM_000507.4(FBP1):c.127A>T (p.Lys43Ter) AND Fructose-biphosphatase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 25, 2021
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:: RCV001994826.4

Allele description [Variation Report for NM_000507.4(FBP1):c.127A>T (p.Lys43Ter)]

NM_000507.4(FBP1):c.127A>T (p.Lys43Ter)

Gene:

FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000507.4(FBP1):c.127A>T (p.Lys43Ter)

HGVS:

NC_000009.12:g.94639184T>A
NG_008174.1:g.6066A>T
NM_000507.4:c.127A>TMANE SELECT
NM_001127628.2:c.127A>T
NP_000498.2:p.Lys43Ter
NP_001121100.1:p.Lys43Ter
NC_000009.11:g.97401466T>A

Protein change:

K43*

Links:

dbSNP: rs2131509216

NCBI 1000 Genomes Browser:

rs2131509216

Molecular consequence:

NM_000507.4:c.127A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127628.2:c.127A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Fructose-biphosphatase deficiency (FBP1D)
Synonyms:: Baker-Winegrad disease; Fructose-1,6-Diphosphatase Deficiency; Fructose 1,6 Bisphosphatase Deficiency
Identifiers:: MONDO: MONDO:0009251; MedGen: C0016756; Orphanet: 348; OMIM: 229700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002233898	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 25, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 9382095, 19259699, 27101822, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002233898

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 25, 2021)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M.

Am J Hum Genet. 1997 Oct;61(4):852-61.

PubMed [citation]

PMID:: 9382095
PMCID:: PMC1715983

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH.

Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4.

PubMed [citation]

PMID:: 19259699

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002233898.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FBP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys43*) in the FBP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBP1 are known to be pathogenic (PMID: 9382095, 19259699, 27101822).

#	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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