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NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs) AND FBP1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 26, 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:
RCV003922670.1

Allele description [Variation Report for NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)]

NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)

Gene:
FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)
HGVS:
  • NC_000009.12:g.94603438delinsCC
  • NG_008174.1:g.41812delinsGG
  • NM_000507.4:c.960delinsGGMANE SELECT
  • NM_001127628.2:c.960delinsGG
  • NP_000498.2:p.Ser321fs
  • NP_001121100.1:p.Ser321fs
  • NC_000009.11:g.97365720delinsCC
  • NM_000507.3:c.960delAinsGG
  • NM_000507.3:c.960delinsGG
Protein change:
S321fs
Links:
dbSNP: rs1057517733
NCBI 1000 Genomes Browser:
rs1057517733
Molecular consequence:
  • NM_000507.4:c.960delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127628.2:c.960delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
FBP1-related disorder
Synonyms:
FBP1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004754092PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 26, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 PreventionGenetics, part of Exact Sciences, SCV004754092.1

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

Description

The FBP1 c.960delinsGG variant is predicted to result in a frameshift and premature protein termination (p.Ser321Valfs*13). This variant was previously reported in the homozygous state or heterozygous state with a second pathogenic FBP1 variant in patients with fructose-1,6-bisphophatase deficiency (e.g., described as InsG960/961 in Kikawa et al. 1997. PubMed ID: 9382095; Li et al. 2017. PubMed ID: 28420223). The c.960delinsGG variant is located in the last exon of FBP1 and although it is not expected to result in nonsense-mediated mRNA decay, it is predicted to disrupt the C-terminus of the FBP1 protein. The c.960_961insG (p.Ser321Valfs*13) variant is present on 29 of ~283,000 alleles in one large public population database (https://gnomad.broadinstitute.org/variant/chr9-97365719-A-AC). Other frameshift variants both up- and downstream of this variant have been reported in association with in FBP1 fructose-1,6-bisphophatase deficiency (Human Gene Mutation Database; https://www.hgmd.cf.ac.uk/). Based on the collective evidence, this variant is interpreted as pathogenic.

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

Last Updated: May 12, 2024