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NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) AND Tubulinopathy-associated dysgyria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2021
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:
RCV001803691.1

Allele description [Variation Report for NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)]

NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)

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.652G>A (p.Asp218Asn)
HGVS:
  • NC_000012.12:g.49185714C>T
  • NG_008966.1:g.8365G>A
  • NM_001270399.2:c.652G>A
  • NM_001270400.2:c.547G>A
  • NM_006009.4:c.652G>AMANE SELECT
  • NP_001257328.1:p.Asp218Asn
  • NP_001257328.1:p.Asp218Asn
  • NP_001257329.1:p.Asp183Asn
  • NP_006000.2:p.Asp218Asn
  • NC_000012.11:g.49579497C>T
  • NM_001270399.1:c.652G>A
  • NM_006009.2:c.652G>A
  • NM_006009.3:c.652G>A
Protein change:
D183N
Links:
dbSNP: rs1057517858
NCBI 1000 Genomes Browser:
rs1057517858
Molecular consequence:
  • NM_001270399.2:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270400.2:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006009.4:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
dominant_negative_variant [Sequence Ontology: SO:0002052]

Condition(s)

Name:
Tubulinopathy-associated dysgyria
Identifiers:
MONDO: MONDO:0018763; MedGen: C5568850

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002047681Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 1, 2021) 		unknownresearch

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, et al.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PubMed [citation]
PMID:
31474318
PMCID:
PMC6731369

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB.

Hum Mol Genet. 2010 Jul 15;19(14):2817-27. doi: 10.1093/hmg/ddq182. Epub 2010 May 12.

PubMed [citation]
PMID:
20466733
PMCID:
PMC2893812
See all PubMed Citations (4)

Details of each submission

From Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, SCV002047681.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024