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NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 10, 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:
RCV000658151.1

Allele description [Variation Report for NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro)]

NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro)

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.520G>C (p.Ala174Pro)
HGVS:
  • NC_000012.12:g.49185846C>G
  • NG_008966.1:g.8233G>C
  • NM_001270399.2:c.520G>C
  • NM_001270400.2:c.415G>C
  • NM_006009.4:c.520G>CMANE SELECT
  • NP_001257328.1:p.Ala174Pro
  • NP_001257329.1:p.Ala139Pro
  • NP_006000.2:p.Ala174Pro
  • NC_000012.11:g.49579629C>G
  • NM_006009.2:c.520G>C
Protein change:
A139P
Links:
dbSNP: rs1555162392
NCBI 1000 Genomes Browser:
rs1555162392
Molecular consequence:
  • NM_001270399.2:c.520G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270400.2:c.415G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006009.4:c.520G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779922GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 10, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779922.2

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

Description

A variant that is likely pathogenic has been identified in the TUBA1A gene. The A174P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A174P variant is not observed in large population cohorts (Lek et al., 2016). The A174P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. A different missense change at this residue (A174V) has been reported as likely pathogenic in a patient previously tested at GeneDx with global developmental delay and a neuronal migration disorder. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022