NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) AND TUBB3-related disorder

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV001788210.1

Allele description [Variation Report for NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)]

NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)

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.763G>A (p.Val255Ile)

HGVS:

NC_000016.10:g.89935214G>A
NG_027810.1:g.18206G>A
NM_001197181.2:c.547G>A
NM_006086.4:c.763G>AMANE SELECT
NP_001184110.1:p.Val183Ile
NP_006077.2:p.Val255Ile
NC_000016.9:g.90001622G>A
NM_006086.3:c.763G>A

Protein change:

V183I

Links:

dbSNP: rs1057517908

NCBI 1000 Genomes Browser:

rs1057517908

Molecular consequence:

NM_001197181.2:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006086.4:c.763G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: TUBB3-related disorder
Synonyms:: TUBB3-related condition; TUBB3-related disorders
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002030752	GenomeConnect - Brain Gene Registry	no classification provided	not provided	de novo	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002030752

GenomeConnect - Brain Gene Registry

no classification provided

not provided

de novo

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV002030752.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpreted as Pathogenic and reported on 07-18-2019 by Lab or GTR ID 26957. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR ) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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