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NM_000507.4(FBP1):c.131_132del (p.Ala44fs) AND Fructose-biphosphatase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 4, 2023
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:
RCV003496818.2

Allele description [Variation Report for NM_000507.4(FBP1):c.131_132del (p.Ala44fs)]

NM_000507.4(FBP1):c.131_132del (p.Ala44fs)

Gene:
FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
HGVS:
  • NC_000009.12:g.94639179_94639180del
  • NG_008174.1:g.6070_6071del
  • NM_000507.4:c.131_132delMANE SELECT
  • NM_001127628.2:c.131_132del
  • NP_000498.2:p.Ala44fs
  • NP_001121100.1:p.Ala44fs
  • NC_000009.11:g.97401461_97401462del
Protein change:
A44fs
Molecular consequence:
  • NM_000507.4:c.131_132del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127628.2:c.131_132del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004336902Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 4, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV004336902.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Ala44Aspfs*25) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FBP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024