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NM_000507.4(FBP1):c.720_729del (p.Tyr241fs) AND Fructose-biphosphatase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 27, 2017
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:
RCV000456113.1

Allele description [Variation Report for NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)]

NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)

Gene:
FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)
HGVS:
  • NC_000009.12:g.94605555_94605564del
  • NG_008174.1:g.39688_39697del
  • NM_000507.4:c.720_729delMANE SELECT
  • NM_001127628.2:c.720_729del
  • NP_000498.2:p.Tyr241fs
  • NP_001121100.1:p.Tyr241fs
  • NC_000009.11:g.97367837_97367846del
  • NM_000507.3:c.720_729del
Protein change:
Y241fs
Links:
dbSNP: rs1060499726
NCBI 1000 Genomes Browser:
rs1060499726
Molecular consequence:
  • NM_000507.4:c.720_729del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127628.2:c.720_729del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
amphigoric amino acid deletion [Variation Ontology: 0017]
Observations:
1

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
SCV000537873Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 27, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, SCV000537873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022