U.S. flag

An official website of the United States government

NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter) AND AIPL1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 2017
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:
RCV000778508.4

Allele description [Variation Report for NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)]

NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)

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.985C>T (p.Gln329Ter)
HGVS:
  • NC_000017.11:g.6425630G>A
  • NG_008474.1:g.14570C>T
  • NM_001033054.3:c.796C>T
  • NM_001033055.3:c.805C>T
  • NM_001285399.3:c.949C>T
  • NM_001285400.3:c.919C>T
  • NM_001285401.3:c.913C>T
  • NM_001285402.2:c.868C>T
  • NM_001285403.4:c.*956C>T
  • NM_014336.5:c.985C>TMANE SELECT
  • NP_001028226.1:p.Gln266Ter
  • NP_001028227.1:p.Gln269Ter
  • NP_001272328.1:p.Gln317Ter
  • NP_001272329.1:p.Gln307Ter
  • NP_001272330.1:p.Gln305Ter
  • NP_001272331.1:p.Gln290Ter
  • NP_055151.3:p.Gln329Ter
  • NC_000017.10:g.6328950G>A
  • NM_014336.3:c.985C>T
  • NM_014336.4:c.985C>T
Protein change:
Q266*
Links:
dbSNP: rs1208703297
NCBI 1000 Genomes Browser:
rs1208703297
Molecular consequence:
  • NM_001285403.4:c.*956C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033054.3:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001033055.3:c.805C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001285399.3:c.949C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001285400.3:c.919C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001285401.3:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001285402.2:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014336.5:c.985C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
AIPL1-related disorder
Synonyms:
AIPL1-Related Disorders; AIPL1-related condition
Identifiers:
MedGen: CN239169

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000914781Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(May 18, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914781.1

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

Description

The AIPL1 c.985C>T (p.Gln329Ter) variant is a stop-gained variant and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Control data are unavailable for this variant, and it is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium, in a region with good sequence coverage, and hence is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Gln329Ter is classified as a variant of unknown significance, but suspicious for pathogenicity for AIPL1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: May 12, 2024