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NM_015176.4(FBXO28):c.97C>T (p.Pro33Ser) AND FBXO28-related developmental and epileptic encephalopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 27, 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:
RCV001563610.4

Allele description [Variation Report for NM_015176.4(FBXO28):c.97C>T (p.Pro33Ser)]

NM_015176.4(FBXO28):c.97C>T (p.Pro33Ser)

Gene:
FBXO28:F-box protein 28 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.11
Genomic location:
Preferred name:
NM_015176.4(FBXO28):c.97C>T (p.Pro33Ser)
HGVS:
  • NC_000001.11:g.224114226C>T
  • NM_001136115.3:c.97C>T
  • NM_015176.4:c.97C>TMANE SELECT
  • NP_001129587.1:p.Pro33Ser
  • NP_055991.1:p.Pro33Ser
  • NC_000001.10:g.224301928C>T
  • NR_049764.2:n.116C>T
Protein change:
P33S
Links:
dbSNP: rs2102604513
NCBI 1000 Genomes Browser:
rs2102604513
Molecular consequence:
  • NM_001136115.3:c.97C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015176.4:c.97C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_049764.2:n.116C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
FBXO28-related developmental and epileptic encephalopathy
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001786585Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Jan 27, 2021) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001786585.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The FBXO28 c.97C>T (p.Pro33Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. The p.Pro33Ser variant is located in the first of five exons encoded by the canonical transcript (NM_015176.3), upstream of the F-box domain. Based on the limited evidence, the p.Pro33Ser variant is classified as a variant of uncertain significance for FBXO28-related developmental and epileptic encephalopathy.

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

Last Updated: Dec 24, 2023