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NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val) AND Lissencephaly due to TUBA1A mutation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 13, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001788546.1

Allele description [Variation Report for NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val)]

NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val)

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.431G>T (p.Gly144Val)
HGVS:
  • NC_000012.12:g.49185935C>A
  • NG_008966.1:g.8144G>T
  • NM_001270399.2:c.431G>T
  • NM_001270400.2:c.326G>T
  • NM_006009.4:c.431G>TMANE SELECT
  • NP_001257328.1:p.Gly144Val
  • NP_001257329.1:p.Gly109Val
  • NP_006000.2:p.Gly144Val
  • NC_000012.11:g.49579718C>A
Protein change:
G109V
Links:
dbSNP: rs2121245032
NCBI 1000 Genomes Browser:
rs2121245032
Molecular consequence:
  • NM_001270399.2:c.431G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270400.2:c.326G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006009.4:c.431G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001712247Pediatric Genetics Clinic, Sheba Medical Center
no assertion criteria provided
Pathogenic
(May 13, 2021) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Details of each submission

From Pediatric Genetics Clinic, Sheba Medical Center, SCV001712247.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023