NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) AND Leber congenital amaurosis 4

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jan 31, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001080307.13

Allele description [Variation Report for NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)]

NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)

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.971G>T (p.Arg324Leu)

HGVS:

NC_000017.11:g.6425644C>A
NG_008474.1:g.14556G>T
NM_001033054.3:c.782G>T
NM_001033055.3:c.791G>T
NM_001285399.3:c.935G>T
NM_001285400.3:c.905G>T
NM_001285401.3:c.899G>T
NM_001285402.2:c.854G>T
NM_001285403.4:c.*942G>T
NM_014336.5:c.971G>TMANE SELECT
NP_001028226.1:p.Arg261Leu
NP_001028227.1:p.Arg264Leu
NP_001272328.1:p.Arg312Leu
NP_001272329.1:p.Arg302Leu
NP_001272330.1:p.Arg300Leu
NP_001272331.1:p.Arg285Leu
NP_055151.3:p.Arg324Leu
NC_000017.10:g.6328964C>A
NM_014336.3:c.971G>T
NM_014336.4:c.971G>T

Protein change:

R261L

Links:

dbSNP: rs150427474

NCBI 1000 Genomes Browser:

rs150427474

Molecular consequence:

NM_001285403.4:c.*942G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001033054.3:c.782G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001033055.3:c.791G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001285399.3:c.935G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001285400.3:c.905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001285401.3:c.899G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001285402.2:c.854G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014336.5:c.971G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Leber congenital amaurosis 4 (LCA4)
Synonyms:: Amaurosis congenita of Leber, type 4
Identifiers:: MONDO: MONDO:0011458; MedGen: C1858386; OMIM: 604393

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001020949	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001283227	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001020949

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

clinical testing

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

SCV001283227

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

Citation Link

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	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001020949.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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

From Illumina Laboratory Services, Illumina, SCV001283227.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Sep 29, 2024

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