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NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) AND Tubulinopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 1, 2018
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:
RCV000767507.2

Allele description [Variation Report for NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly)]

NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly)

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.596A>G (p.Asp199Gly)
HGVS:
  • NC_000012.12:g.49185770T>C
  • NG_008966.1:g.8309A>G
  • NM_001270399.2:c.596A>G
  • NM_001270400.2:c.491A>G
  • NM_006009.4:c.596A>GMANE SELECT
  • NP_001257328.1:p.Asp199Gly
  • NP_001257329.1:p.Asp164Gly
  • NP_006000.2:p.Asp199Gly
  • NC_000012.11:g.49579553T>C
  • NM_006009.3:c.596A>G
Protein change:
D164G
Links:
dbSNP: rs786205479
NCBI 1000 Genomes Browser:
rs786205479
Molecular consequence:
  • NM_001270399.2:c.596A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270400.2:c.491A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006009.4:c.596A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tubulinopathy
Synonyms:
Tubulinopathies
Identifiers:
MONDO: MONDO:0100153; MedGen: CN850169

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000898122Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jul 1, 2018)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B.

Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Review.

PubMed [citation]
PMID:
30744660
PMCID:
PMC6371496

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 Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000898122.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (2)

Description

A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.596A>G, p.(Asp199Gly) variant has been reported as a variant of germline/unknown origin.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 4, 2024