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NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 2023
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:
RCV003403952.1

Allele description [Variation Report for NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys)]

NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys)

Gene:
TUBB3:tubulin beta 3 class III [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys)
HGVS:
  • NC_000016.10:g.89935772G>A
  • NG_027810.1:g.18764G>A
  • NM_001197181.2:c.1105G>A
  • NM_006086.4:c.1321G>AMANE SELECT
  • NP_001184110.1:p.Glu369Lys
  • NP_006077.2:p.Glu441Lys
  • NC_000016.9:g.90002180G>A
Protein change:
E369K
Molecular consequence:
  • NM_001197181.2:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006086.4:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004122074Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 24, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004122074.1

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

Description

Variant summary: TUBB3 c.1321G>A (p.Glu441Lys) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251090 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1321G>A in individuals affected with Cortical Dysplasia, Complex, With Other Brain Malformations 1 and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024