NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr) AND Tubulinopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2018
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:: RCV000767477.2

Allele description [Variation Report for NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr)]

NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr)

Gene:

TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr)

HGVS:

NC_000012.12:g.49185767C>T
NG_008966.1:g.8312G>A
NM_001270399.2:c.599G>A
NM_001270400.2:c.494G>A
NM_006009.4:c.599G>AMANE SELECT
NP_001257328.1:p.Cys200Tyr
NP_001257329.1:p.Cys165Tyr
NP_006000.2:p.Cys200Tyr
NC_000012.11:g.49579550C>T
NM_006009.3:c.599G>A

Protein change:

C165Y

Links:

dbSNP: rs1565627260

NCBI 1000 Genomes Browser:

rs1565627260

Molecular consequence:

NM_001270399.2:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270400.2:c.494G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006009.4:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Tubulinopathy
Synonyms:: Tubulinopathies
Identifiers:: MONDO: MONDO:0100153; MedGen: CN850169

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000898092	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2018)	de novo	literature only	PubMed (2) [See all records that cite these PMIDs] 30744660, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000898092

Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 1, 2018)

de novo

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B.

Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Review.

PubMed [citation]

PMID:: 30744660
PMCID:: PMC6371496

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 Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000898092.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (2)

Description

A variant that is classified as pathogenic has been identified in the TUBA1A gene in a 8 years old born individual of female sex. The c.599G>A, p.(Cys200Tyr) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Hikita et al. Brain Dev, 2014 PMID: 23528852. HPO-standardized clinical features were: Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); no Gray matter heterotopia (-HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)

#	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		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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