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NM_001069.3(TUBB2A):c.609T>G (p.Asp203Glu) AND Complex cortical dysplasia with other brain malformations 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 2024
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:
RCV004556129.1

Allele description [Variation Report for NM_001069.3(TUBB2A):c.609T>G (p.Asp203Glu)]

NM_001069.3(TUBB2A):c.609T>G (p.Asp203Glu)

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.609T>G (p.Asp203Glu)
Other names:
NM_001310315.2:c.354T>G
HGVS:
  • NC_000006.12:g.3154592A>C
  • NG_042223.1:g.7958T>G
  • NM_001069.3:c.609T>GMANE SELECT
  • NM_001310315.2:c.354T>G
  • NP_001060.1:p.Asp203Glu
  • NP_001297244.1:p.Asp118Glu
  • NC_000006.11:g.3154826A>C
Protein change:
D118E
Molecular consequence:
  • NM_001069.3:c.609T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310315.2:c.354T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Complex cortical dysplasia with other brain malformations 5
Identifiers:
MONDO: MONDO:0014337; MedGen: C3810407; OMIM: 615763

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005045254Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(May 22, 2024) 		germlinecuration

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV005045254.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The heterozygous p.Asp203Glu variant in TUBB2A was identified by our study in one individual with cortical dysplasia, complex, with other brain malformations 5. Trio exome analysis showed this variant to be de novo. The variant has not been previously reported in individuals with cortical dysplasia, complex, with other brain malformations 5 and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. The number of missense variants reported in TUBB2A in the general population is lower than expected, suggesting there is little benign variation in this gene and slightly increasing the possibility that a missense variant in this gene may not be tolerated. In summary, the clinical significance of the p.Asp203Glu variant is uncertain. ACMG/AMP Criteria applied: PS2_Supporting, PP3, PP2, PM2_Supporting (Richards 2015).

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

Last Updated: Jun 2, 2024