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NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 29, 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:
RCV000622288.3

Allele description [Variation Report for NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn)]

NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn)

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.379G>A (p.Asp127Asn)
HGVS:
  • NC_000012.12:g.49185987C>T
  • NG_008966.1:g.8092G>A
  • NM_001270399.2:c.379G>A
  • NM_001270400.2:c.274G>A
  • NM_006009.4:c.379G>AMANE SELECT
  • NP_001257328.1:p.Asp127Asn
  • NP_001257329.1:p.Asp92Asn
  • NP_006000.2:p.Asp127Asn
  • NC_000012.11:g.49579770C>T
  • NM_006009.2:c.379G>A
  • NM_006009.3:c.379G>A
Protein change:
D127N
Links:
dbSNP: rs1085308005
NCBI 1000 Genomes Browser:
rs1085308005
Molecular consequence:
  • NM_001270399.2:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270400.2:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006009.4:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742339Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Aug 29, 2018) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium., Beldjord C, Chelly J.

Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082.

PubMed [citation]
PMID:
24860126

Tubulin sequence region beta 155-174 is involved in binding exchangeable guanosine triphosphate.

Hesse J, Thierauf M, Ponstingl H.

J Biol Chem. 1987 Nov 15;262(32):15472-5.

PubMed [citation]
PMID:
3680207
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000742339.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (4)
2Hispanic1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024