NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) AND Abnormal cerebral morphology

Germline classification:: 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:: RCV002275022.1

Allele description [Variation Report for NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)]

NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)

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.862G>A (p.Glu288Lys)

HGVS:

NC_000016.10:g.89935313G>A
NG_027810.1:g.18305G>A
NM_001197181.2:c.646G>A
NM_006086.4:c.862G>AMANE SELECT
NP_001184110.1:p.Glu216Lys
NP_006077.2:p.Glu288Lys
NC_000016.9:g.90001721G>A
NM_001197181.1:c.646G>A
NM_006086.3:c.862G>A

Protein change:

E216K

Links:

dbSNP: rs1057521924

NCBI 1000 Genomes Browser:

rs1057521924

Molecular consequence:

NM_001197181.2:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006086.4:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Abnormal cerebral morphology
Synonyms:: Abnormality of the cerebrum
Identifiers:: MedGen: C4021762; Human Phenotype Ontology: HP:0002060

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Social Conformity
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Behavioral or attitudinal compliance with recognized social patterns or standards. Year introduced: 1968

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Helping Behavior
Helping Behavior
Behaviors associated with the giving of assistance or aid to individuals. Year introduced: 1979(1975)

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Bias, Implicit
Bias, Implicit
The attitudes or stereotypes that affect understanding, actions, and decisions in an unconscious manner. These biases which include favorable and unfavorable assessments, are ... Year introduced: 2022

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Social Inclusion
Social Inclusion
The process of improving the basis on which individuals and groups take part in society by improving the ability, opportunity, and dignity of those disadvantaged.... Year introduced: 2021

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Incivility
Incivility
Low-intensity deviant behavior with ambiguous intent to harm the target, in violation of norms for mutual respect. Year introduced: 2018

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002562774	Diagnostic Laboratory, Strasbourg University Hospital	no assertion criteria provided	Pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002562774

Diagnostic Laboratory, Strasbourg University Hospital

no assertion criteria provided

Pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV002562774.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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