NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) AND Lissencephaly due to TUBA1A mutation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 8, 2013
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:: RCV000147816.6

Allele description [Variation Report for NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg)]

NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg)

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.698A>G (p.Gln233Arg)

HGVS:

NC_000012.12:g.49185668T>C
NG_008966.1:g.8411A>G
NM_001270399.2:c.698A>G
NM_001270400.2:c.593A>G
NM_006009.4:c.698A>GMANE SELECT
NP_001257328.1:p.Gln233Arg
NP_001257329.1:p.Gln198Arg
NP_006000.2:p.Gln233Arg
NC_000012.11:g.49579451T>C
NM_006009.3:c.698A>G

Protein change:

Q198R

Links:

dbSNP: rs587784492

NCBI 1000 Genomes Browser:

rs587784492

Molecular consequence:

NM_001270399.2:c.698A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001270400.2:c.593A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006009.4:c.698A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lissencephaly due to TUBA1A mutation (LIS3)
Synonyms:: Lissencephaly 3
Identifiers:: MONDO: MONDO:0012703; MedGen: C4305153; Orphanet: 171680; OMIM: 611603

Recent activity

Clear Turn Off Turn On

small ribosomal subunit protein eS19 isoform a [Mus musculus]
small ribosomal subunit protein eS19 isoform a [Mus musculus]
gi|12963511|ref|NP_075622.1|

Protein
Hmx2 protein [Mus musculus]
Hmx2 protein [Mus musculus]
gi|19483944|gb|AAH23402.1|

Protein
Lrrc73 leucine rich repeat containing 73 [Rattus norvegicus]
Lrrc73 leucine rich repeat containing 73 [Rattus norvegicus]
Gene ID:501101

Gene
uncharacterized protein LOC111496320 [Cucurbita maxima]
uncharacterized protein LOC111496320 [Cucurbita maxima]
gi|1281035910|ref|XP_023002496.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000195289	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Likely pathogenic (Feb 8, 2013)	germline	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

SCV000195289

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Likely pathogenic
(Feb 8, 2013)

germline

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000195289.1

#	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

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine