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NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) AND Complex cortical dysplasia with other brain malformations 7

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Nov 29, 2021
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:
RCV000192694.8

Allele description [Variation Report for NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)]

NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)

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.292G>A (p.Gly98Arg)
HGVS:
  • NC_000006.12:g.3225797C>T
  • NG_016715.1:g.6938G>A
  • NM_178012.5:c.292G>AMANE SELECT
  • NP_821080.1:p.Gly98Arg
  • NC_000006.11:g.3226031C>T
  • NM_178012.4:c.292G>A
Protein change:
G98R
Links:
dbSNP: rs797046075
NCBI 1000 Genomes Browser:
rs797046075
Molecular consequence:
  • NM_178012.5:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Complex cortical dysplasia with other brain malformations 7
Synonyms:
Polymicrogyria, asymmetric
Identifiers:
MONDO: MONDO:0012399; MedGen: C3552236; Orphanet: 300573; OMIM: 610031

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000249306Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Likely pathogenic
(Oct 29, 2013) 		germlineclinical testing

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

SCV002579648MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 29, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical 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

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000249306.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From MGZ Medical Genetics Center, SCV002579648.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024