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NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 2016
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:
RCV000254739.1

Allele description [Variation Report for NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)]

NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)

Gene:
AAAS:aladin WD repeat nucleoporin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)
HGVS:
  • NC_000012.12:g.53308754A>G
  • NG_016775.1:g.17875T>C
  • NM_001173466.2:c.959T>C
  • NM_015665.6:c.1058T>CMANE SELECT
  • NP_001166937.1:p.Ile320Thr
  • NP_056480.1:p.Ile353Thr
  • NC_000012.11:g.53702538A>G
  • NM_015665.5:c.1058T>C
Protein change:
I320T
Links:
dbSNP: rs765757844
NCBI 1000 Genomes Browser:
rs765757844
Molecular consequence:
  • NM_001173466.2:c.959T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015665.6:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000321306GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 5, 2016) 		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, SCV000321306.7

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

Description

A I353T variant that is likely pathogenic was identified in the AAAS gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I353T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity and size. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in a nearby residue (L344Q) has been previously reported in association with Triple-A syndrome (Dixit et al., 2011), supporting the functional importance of this region of the protein. Therefore, this I353T variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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

Last Updated: Jun 23, 2024