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NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) AND Juvenile retinitis pigmentosa, AIPL1-related

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000005909.2

Allele description [Variation Report for NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)]

NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)

Gene:
AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
HGVS:
  • NC_000017.11:g.6425561_6425572del
  • NG_008474.1:g.14638_14649del
  • NM_001033054.3:c.864_875del
  • NM_001033055.3:c.873_884del
  • NM_001285399.3:c.1017_1028del
  • NM_001285400.3:c.987_998del
  • NM_001285401.3:c.981_992del
  • NM_001285402.2:c.936_947del
  • NM_001285403.4:c.*1024_*1035del
  • NM_014336.5:c.1053_1064delMANE SELECT
  • NP_001028226.1:p.Ala289_Pro292del
  • NP_001028227.1:p.Ala292_Pro295del
  • NP_001272328.1:p.Ala340_Pro343del
  • NP_001272329.1:p.Ala330_Pro333del
  • NP_001272330.1:p.Ala328_Pro331del
  • NP_001272331.1:p.Ala313_Pro316del
  • NP_055151.3:p.Ala352_Pro355del
  • NC_000017.10:g.6328871_6328882del
  • NC_000017.10:g.6328881_6328892del
  • NM_014336.3:c.1043_1054delCAGAGCCACCTG
  • NM_014336.3:c.1053_1064del
  • NM_014336.3:c.1053_1064delTGCAGAGCCACC
  • NM_014336.4:c.1053_1064del12
Links:
OMIM: 604392.0004; dbSNP: rs281865195
NCBI 1000 Genomes Browser:
rs281865195
Molecular consequence:
  • NM_001285403.4:c.*1024_*1035del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033054.3:c.864_875del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001033055.3:c.873_884del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001285399.3:c.1017_1028del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001285400.3:c.987_998del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001285401.3:c.981_992del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001285402.2:c.936_947del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014336.5:c.1053_1064del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Juvenile retinitis pigmentosa, AIPL1-related
Synonyms:
AIPL1-Related Retinitis Pigmentosa
Identifiers:
MedGen: C2751763

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026091OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2000)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP.

Mol Genet Metab. 2000 Jun;70(2):142-50.

PubMed [citation]
PMID:
10873396

Details of each submission

From OMIM, SCV000026091.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected individuals in 2 unrelated families with an apparently dominant retinal degenerative disorder, diagnosed as juvenile retinitis pigmentosa (see 604393) in one and cone-rod dystrophy (see 604393) in the other, Sohocki et al. (2000) found heterozygosity for a 12-bp AIPL1 deletion, pro351del12, or del1053-1064, in the 'hinge' region of the protein.

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

Last Updated: Jul 7, 2024