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NM_178014.4(TUBB):c.710C>G (p.Thr237Ser) AND Complex cortical dysplasia with other brain malformations 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 23, 2020
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:
RCV001809064.1

Allele description [Variation Report for NM_178014.4(TUBB):c.710C>G (p.Thr237Ser)]

NM_178014.4(TUBB):c.710C>G (p.Thr237Ser)

Gene:
TUBB:tubulin beta class I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_178014.4(TUBB):c.710C>G (p.Thr237Ser)
HGVS:
  • NC_000006.12:g.30723772C>G
  • NG_034142.1:g.8572C>G
  • NM_001293212.2:c.770C>G
  • NM_001293213.2:c.370-266C>G
  • NM_001293214.2:c.578C>G
  • NM_001293215.2:c.494C>G
  • NM_001293216.2:c.494C>G
  • NM_178014.4:c.710C>GMANE SELECT
  • NP_001280141.1:p.Thr257Ser
  • NP_001280143.1:p.Thr193Ser
  • NP_001280144.1:p.Thr165Ser
  • NP_001280145.1:p.Thr165Ser
  • NP_821133.1:p.Thr237Ser
  • NC_000006.11:g.30691549C>G
  • NM_001293212.1:c.770C>G
Protein change:
T165S
Links:
dbSNP: rs2127749496
NCBI 1000 Genomes Browser:
rs2127749496
Molecular consequence:
  • NM_001293213.2:c.370-266C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293212.2:c.770C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293214.2:c.578C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293215.2:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293216.2:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178014.4:c.710C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Complex cortical dysplasia with other brain malformations 6
Identifiers:
MONDO: MONDO:0014341; MedGen: C4014283; OMIM: 615771

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002059423Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 23, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Centogene AG - the Rare Disease Company, SCV002059423.1

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

Last Updated: Dec 24, 2023