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NM_178014.4(TUBB):c.682C>G (p.Leu228Val) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 16, 2017
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:
RCV000421687.1

Allele description [Variation Report for NM_178014.4(TUBB):c.682C>G (p.Leu228Val)]

NM_178014.4(TUBB):c.682C>G (p.Leu228Val)

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.682C>G (p.Leu228Val)
HGVS:
  • NC_000006.12:g.30723744C>G
  • NG_034142.1:g.8544C>G
  • NM_001293212.2:c.742C>G
  • NM_001293213.2:c.370-294C>G
  • NM_001293214.2:c.550C>G
  • NM_001293215.2:c.466C>G
  • NM_001293216.2:c.466C>G
  • NM_178014.4:c.682C>GMANE SELECT
  • NP_001280141.1:p.Leu248Val
  • NP_001280143.1:p.Leu184Val
  • NP_001280144.1:p.Leu156Val
  • NP_001280145.1:p.Leu156Val
  • NP_821133.1:p.Leu228Val
  • NC_000006.11:g.30691521C>G
  • NM_178014.3:c.682C>G
Protein change:
L156V
Links:
dbSNP: rs1057524718
NCBI 1000 Genomes Browser:
rs1057524718
Molecular consequence:
  • NM_001293213.2:c.370-294C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293212.2:c.742C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293214.2:c.550C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293215.2:c.466C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293216.2:c.466C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178014.4:c.682C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536303GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 16, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000536303.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A apparently de novo variant that is likely pathogenic has been identified in the TUBB gene. The L228V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L228V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the L228V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022