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NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 2022
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:
RCV000489384.4

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]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000577820GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Feb 23, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000577820.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); A different missense change at this residue p.(D127E) has been reported in the published literature (Sato et al., 2018); This variant is associated with the following publications: (PMID: 29907476, 24860126, 32005694, 30744660, 6945576, 3680207)

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

Last Updated: Jun 23, 2024