NM_006009.4(TUBA1A):c.967G>A (p.Val323Met) AND Tubulinopathy-associated dysgyria

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 1, 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:: RCV001803371.1

Allele description [Variation Report for NM_006009.4(TUBA1A):c.967G>A (p.Val323Met)]

NM_006009.4(TUBA1A):c.967G>A (p.Val323Met)

Gene:

TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_006009.4(TUBA1A):c.967G>A (p.Val323Met)

HGVS:

NC_000012.12:g.49185399C>T
NG_008966.1:g.8680G>A
NM_001270399.2:c.967G>A
NM_001270400.2:c.862G>A
NM_006009.4:c.967G>AMANE SELECT
NP_001257328.1:p.Val323Met
NP_001257329.1:p.Val288Met
NP_006000.2:p.Val323Met
NC_000012.11:g.49579182C>T
NM_006009.2:c.967G>A

Protein change:

V288M

Links:

dbSNP: rs2121242709

NCBI 1000 Genomes Browser:

rs2121242709

Molecular consequence:

NM_001270399.2:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270400.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006009.4:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

dominant_negative_variant [Sequence Ontology: SO:0002052]

Condition(s)

Name:: Tubulinopathy-associated dysgyria
Identifiers:: MONDO: MONDO:0018763; MedGen: C5568850

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002047683	Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 1, 2021)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002047683

Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 1, 2021)

de novo

research

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	1	not provided	not provided	1	not provided	research

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 Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, SCV002047683.1

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

#	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: Dec 24, 2023

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