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NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 8, 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:
RCV001566123.7

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001789596GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 8, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001789596.5

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

Description

Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23020937, 29300972, 28777933, 30517966, 31931739, 28191890, 29447355, 33084218, 33026538, 33726816, 31785789, 33101984)

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

Last Updated: Jun 23, 2024