NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) AND CONE-ROD DYSTROPHY, AIPL1-RELATED

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jan 6, 2020
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:: RCV000005910.5

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:: CONE-ROD DYSTROPHY, AIPL1-RELATED
Identifiers:: MedGen: C2751764

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026092	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001142467	Reproductive Health Research and Development, BGI Genomics	no assertion criteria provided	Uncertain significance (Jan 6, 2020)	germline	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026092

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2000)

germline

literature only

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

SCV001142467

Reproductive Health Research and Development, BGI Genomics

no assertion criteria provided

Uncertain significance
(Jan 6, 2020)

germline

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000026092.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Reproductive Health Research and Development, BGI Genomics, SCV001142467.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

NM_014336.3:c.1053_1064delTGCAGAGCCACC in the AIPL1 gene has an allele frequency of 0.01 in Ashkenazi Jewish subpopulation in the gnomAD database. It has been detected in two individuals with cone-rod dystrophy (PMID: 10873396). This in-frame deletion happens in a repetitive region without known function. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BP3, PP4.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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