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NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) AND Lissencephaly

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001291304.9

Allele description [Variation Report for NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)]

NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)

Gene:
TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.2
Genomic location:
Preferred name:
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)
HGVS:
  • NC_000006.12:g.3224828C>T
  • NG_016715.1:g.7907G>A
  • NM_178012.5:c.1261G>AMANE SELECT
  • NP_821080.1:p.Glu421Lys
  • NC_000006.11:g.3225062C>T
  • NM_178012.4:c.1261G>A
Protein change:
E421K; GLU421LYS
Links:
OMIM: 612850.0007; dbSNP: rs398122369
NCBI 1000 Genomes Browser:
rs398122369
Molecular consequence:
  • NM_178012.5:c.1261G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lissencephaly
Synonyms:
Lissencephaly spectrum disorders
Identifiers:
MONDO: MONDO:0018838; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001479776University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicde novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics., Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB.

Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19.

PubMed [citation]
PMID:
29671837
PMCID:
PMC6195491

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479776.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024