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NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) AND UBTF-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000845031.1

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]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986866GenomeConnect, ClinGen
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986866.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as pathogenic and reported on 09/21/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024