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NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 2022
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:
RCV001539529.12

Allele description [Variation Report for NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)]

NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)

Gene:
TUBB3:tubulin beta 3 class III [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
HGVS:
  • NC_000016.10:g.89935679G>A
  • NG_027810.1:g.18671G>A
  • NM_001197181.2:c.1012G>A
  • NM_006086.4:c.1228G>AMANE SELECT
  • NP_001184110.1:p.Glu338Lys
  • NP_006077.2:p.Glu410Lys
  • NP_006077.2:p.Glu410Lys
  • NC_000016.9:g.90002087G>A
  • NM_006086.3:c.1228G>A
  • Q13509:p.Glu410Lys
Protein change:
E338K; GLU410LYS
Links:
UniProtKB: Q13509#VAR_062763; OMIM: 602661.0005; dbSNP: rs267607165
NCBI 1000 Genomes Browser:
rs267607165
Molecular consequence:
  • NM_001197181.2:c.1012G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006086.4:c.1228G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001757316GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Sep 6, 2022) 		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, SCV001757316.3

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

Description

Published functional studies demonstrate E410K affected microtubule polymerization and depolymerization rates as well as kinesin interactions on microtubules and reduced axonal transport of mitochondria in peripheral neurons independent of tubulin isoform (Tischfield et al., 2010; Niwa et al., 2013); Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency 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: 29289389, 30272120, 23378218, 25559402, 28299356, 30440138, 29382549, 28677066, 31226147, 20074521, 32573066, 20301522, 20829227, 32005694, 23503589)

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

Last Updated: Oct 26, 2024