NM_178014.4(TUBB):c.961A>G (p.Met321Val) AND Complex cortical dysplasia with other brain malformations 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 27, 2021
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:: RCV003154188.2

Allele description [Variation Report for NM_178014.4(TUBB):c.961A>G (p.Met321Val)]

NM_178014.4(TUBB):c.961A>G (p.Met321Val)

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.961A>G (p.Met321Val)

HGVS:

NC_000006.12:g.30724023A>G
NG_034142.1:g.8823A>G
NM_001293212.2:c.1021A>G
NM_001293213.2:c.370-15A>G
NM_001293214.2:c.829A>G
NM_001293215.2:c.745A>G
NM_001293216.2:c.745A>G
NM_178014.4:c.961A>GMANE SELECT
NP_001280141.1:p.Met341Val
NP_001280143.1:p.Met277Val
NP_001280144.1:p.Met249Val
NP_001280145.1:p.Met249Val
NP_821133.1:p.Met321Val
NC_000006.11:g.30691800A>G
NM_178014.2:c.961A>G
NR_120608.2:n.517A>G

Protein change:

M249V

Links:

dbSNP: rs2127749786

NCBI 1000 Genomes Browser:

rs2127749786

Molecular consequence:

NM_001293213.2:c.370-15A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001293212.2:c.1021A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293214.2:c.829A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293215.2:c.745A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293216.2:c.745A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_178014.4:c.961A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_120608.2:n.517A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003843211	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 27, 2021)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003843211

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 27, 2021)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV003843211.1

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

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

Last Updated: Jun 23, 2024

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