NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) AND Complex cortical dysplasia with other brain malformations 5

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Apr 24, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000193632.8

Allele description [Variation Report for NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)]

NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)

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.1033A>T (p.Ile345Phe)

HGVS:

NC_000006.12:g.3154168T>A
NG_042223.1:g.8382A>T
NM_001069.3:c.1033A>TMANE SELECT
NM_001310315.2:c.778A>T
NP_001060.1:p.Ile345Phe
NP_001297244.1:p.Ile260Phe
NC_000006.11:g.3154402T>A
NM_001069.2:c.1033A>T

Protein change:

I260F

Links:

dbSNP: rs797046074

NCBI 1000 Genomes Browser:

rs797046074

Molecular consequence:

NM_001069.3:c.1033A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001310315.2:c.778A>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000249304	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 24, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000255500	UCLA Clinical Genomics Center, UCLA - CES	criteria provided, single submitter (Lee et al. (JAMA. 2014))	Likely pathogenic (Apr 29, 2014)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000249304

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 24, 2015)

germline

clinical testing

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

SCV000255500

UCLA Clinical Genomics Center, UCLA - CES

criteria provided, single submitter

(Lee et al. (JAMA. 2014))

Likely pathogenic
(Apr 29, 2014)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
European Caucasian,Hispanic	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]

PMID:: 25326637
PMCID:: PMC4278636

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000249304.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255500.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European Caucasian,Hispanic	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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: Apr 9, 2023

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