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NM_014336.5(AIPL1):c.1058A>G (p.Glu353Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 7, 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:
RCV002545375.2

Allele description [Variation Report for NM_014336.5(AIPL1):c.1058A>G (p.Glu353Gly)]

NM_014336.5(AIPL1):c.1058A>G (p.Glu353Gly)

Gene:
AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_014336.5(AIPL1):c.1058A>G (p.Glu353Gly)
HGVS:
  • NC_000017.11:g.6425557T>C
  • NG_008474.1:g.14643A>G
  • NM_001033054.3:c.869A>G
  • NM_001033055.3:c.878A>G
  • NM_001285399.3:c.1022A>G
  • NM_001285400.3:c.992A>G
  • NM_001285401.3:c.986A>G
  • NM_001285402.2:c.941A>G
  • NM_001285403.4:c.*1029A>G
  • NM_014336.3:c.1058A>G
  • NM_014336.5:c.1058A>GMANE SELECT
  • NP_001028226.1:p.Glu290Gly
  • NP_001028227.1:p.Glu293Gly
  • NP_001272328.1:p.Glu341Gly
  • NP_001272329.1:p.Glu331Gly
  • NP_001272330.1:p.Glu329Gly
  • NP_001272331.1:p.Glu314Gly
  • NP_055151.3:p.Glu353Gly
  • NC_000017.10:g.6328877T>C
Protein change:
E290G
Links:
dbSNP: rs1452332999
NCBI 1000 Genomes Browser:
rs1452332999
Molecular consequence:
  • NM_001285403.4:c.*1029A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033054.3:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033055.3:c.878A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285399.3:c.1022A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285400.3:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285401.3:c.986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285402.2:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014336.5:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003632231Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003632231.2

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

Description

The c.1058A>G (p.E353G) alteration is located in exon 6 (coding exon 6) of the AIPL1 gene. This alteration results from a A to G substitution at nucleotide position 1058, causing the glutamic acid (E) at amino acid position 353 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024