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NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) AND TUBB2A-related tubulinopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 9, 2020
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:
RCV001563629.5

Allele description [Variation Report for NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)]

NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)

Gene:
TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.2
Genomic location:
Preferred name:
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)
HGVS:
  • NC_000006.12:g.3154168T>A
  • NG_042223.1:g.8382A>T
  • NM_001069.3:c.1033A>TMANE SELECT
  • NM_001310315.2:c.778A>T
  • NP_001060.1:p.Ile345Phe
  • NP_001297244.1:p.Ile260Phe
  • NC_000006.11:g.3154402T>A
  • NM_001069.2:c.1033A>T
Protein change:
I260F
Links:
dbSNP: rs797046074
NCBI 1000 Genomes Browser:
rs797046074
Molecular consequence:
  • NM_001069.3:c.1033A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310315.2:c.778A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TUBB2A-related tubulinopathy
Identifiers:
MONDO: MONDO:0700044; MedGen: CN322834

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001786607Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Pathogenic
(Dec 9, 2020) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.

Cai S, Li J, Wu Y, Jiang Y.

J Hum Genet. 2020 Jul;65(7):601-608. doi: 10.1038/s10038-020-0739-5. Epub 2020 Mar 16.

PubMed [citation]
PMID:
32203252

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001786607.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The TUBB2A c.1033A>T (p.Ile345Phe) variant is a missense variant that has been identified in a de novo heterozygous state in an individual with developmental delay, epilepsy, seizures, infantile spasms, perisylvian polymicrogyria, microcephaly and plagiocephaly (Lee et al. 2014). The p.Ile345Phe variant is not found in the Genome Aggregation Database in a region of reasonably good sequence coverage, suggesting that it is a rare variant. Additionally, it is located in a C-terminal domain of the TUBB2A gene that is important for protein interaction (Cai et al. 2020) and in silico tools predict damaging effect of the variant on the protein. Based on the collective evidence and application of the ACMG criteria, the p.Ile345Phe variant is classified as pathogenic for TUBB2A-related tubulinopathy.

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

Last Updated: Apr 9, 2023