NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000255388.2

Allele description [Variation Report for NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)]

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

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.292G>A (p.Gly98Ser)
HGVS:
  • NC_000016.10:g.89934743G>A
  • NG_027810.1:g.17735G>A
  • NM_001197181.2:c.76G>A
  • NM_006086.4:c.292G>AMANE SELECT
  • NP_001184110.1:p.Gly26Ser
  • NP_006077.2:p.Gly98Ser
  • NP_006077.2:p.Gly98Ser
  • NP_006077.2:p.Gly98Ser
  • NC_000016.9:g.90001151G>A
  • NM_006086.3:c.292G>A
Protein change:
G26S
Links:
dbSNP: rs587784505
NCBI 1000 Genomes Browser:
rs587784505
Molecular consequence:
  • NM_001197181.2:c.76G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006086.4:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000321989GeneDxcriteria provided, single submitter
Pathogenic
(Apr 25, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000321989.7

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

Description

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 muscles and structural abnormalities of the brain (Whitman et al., 2015). The G98S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G98S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G98S as a pathogenic variant.

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

Last Updated: Sep 18, 2021

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