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NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 20, 2021)
Last evaluated:
Apr 25, 2018
Accession:
VCV000160191.4
Variation ID:
160191
Description:
single nucleotide variant
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NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)

Allele ID
169307
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q24.3
Genomic location
16: 89934743 (GRCh38) GRCh38 UCSC
16: 90001151 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.89934743G>A
NC_000016.9:g.90001151G>A
NG_027810.1:g.17735G>A
... more HGVS
Protein change
G26S, G98S
Other names
-
Canonical SPDI
NC_000016.10:89934742:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA213295
dbSNP: rs587784505
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 25, 2018 RCV000255388.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 1, 2016 RCV000147851.2
Pathogenic 1 no assertion criteria provided Aug 5, 2021 RCV000203608.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TUBB3 No evidence available No evidence available GRCh38
GRCh37
133 186

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 18, 2013)
criteria provided, single submitter
Method: clinical testing
Cortical dysplasia, complex, with other brain malformations 1
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000195325.1
Submitted: (Sep 11, 2014)
Evidence details
Pathogenic
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321989.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The G98S variant in the TUBB3 gene has been reported previously as a de novo change in a child with congenital fibrosis of the extraocular … (more)
Likely pathogenic
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Cortical dysplasia, complex, with other brain malformations 1
Allele origin: de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV000965726.1
Submitted: (Apr 26, 2017)
Evidence details
Pathogenic
(Aug 05, 2021)
no assertion criteria provided
Method: literature only
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
Allele origin: germline
GeneReviews
Accession: SCV000258985.2
Submitted: (Aug 20, 2021)
Evidence details
Publications
PubMed (2)
BookShelf: NBK1348

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Congenital Fibrosis of the Extraocular Muscles Overview Whitman MC - 2021 PMID: 20301522
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Whitman MC American journal of medical genetics. Part A 2016 PMID: 26639658

Text-mined citations for rs587784505...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021