U.S. flag

An official website of the United States government

NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) AND UBTF E210K Neuroregression Syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 2, 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:
RCV000504592.1

Allele description [Variation Report for NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)]

NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)

Genes:
ATXN7L3-AS1:ATXN7L3 antisense RNA 1 [Gene - HGNC]
UBTF:upstream binding transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
Other names:
NM_001076683.1:c.628G>A(p.Glu210Lys); NM_001076684.2:c.628G>A(p.Glu210Lys); NM_014233.3:c.628G>A(p.Glu210Lys)
HGVS:
  • NC_000017.11:g.44212851C>T
  • NG_029864.1:g.13776G>A
  • NM_001076683.2:c.628G>A
  • NM_001076684.3:c.628G>A
  • NM_014233.4:c.628G>AMANE SELECT
  • NP_001070151.1:p.Glu210Lys
  • NP_001070152.1:p.Glu210Lys
  • NP_055048.1:p.Glu210Lys
  • NC_000017.10:g.42290219C>T
  • NM_014233.2:c.628G>A
  • NM_014233.3:c.628G>A
  • NM_014233.4(UBTF):c.628G>AMANE SELECT
  • NR_045058.2:n.799G>A
  • p.Glu210Lys
Protein change:
E210K; GLU210LYS
Links:
OMIM: 600673.0001; dbSNP: rs1555582065
NCBI 1000 Genomes Browser:
rs1555582065
Molecular consequence:
  • NM_001076683.2:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001076684.3:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014233.4:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045058.2:n.799G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
  • protein gain of function [Variation Ontology: 0040]
  • variation affecting protein function [Variation Ontology: 0003]
Observations:
1

Condition(s)

Name:
UBTF E210K Neuroregression Syndrome
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000598648Mark LeDoux Lab, University of Tennessee Health Science Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 2, 2017) 		de novo, not applicableclinical testing, in vitro

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
Caucasian of European ancestryde novoyes1not 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 Mark LeDoux Lab, University of Tennessee Health Science Center, SCV000598648.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
2Caucasian of European ancestry1not providednot providedclinical testing PubMed (1)

Description

Patient (UBTF E210K) fibroblasts showed normal levels of UBTF transcript, increased expression of pre-rRNA and 18S rRNA, nucleolar abnormalities, markedly increased numbers of DNA breaks, defective cell-cycle progression, and apoptosis

Description

Patient fibroblasts showed normal levels of UBTF transcript, increased expression of pre-rRNA and 18S rRNA, nucleolar abnormalities, markedly increased numbers of DNA breaks, defective cell-cycle progression, and apoptosis. Expression of mutant human UBTF NM_014233.3:c.628G>A cDNA in Drosophila neurons was lethal.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providedSkinnot providednot providednot providednot providednot provided
2de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024