U.S. flag

An official website of the United States government

NM_014336.5(AIPL1):c.970C>A (p.Arg324=) AND Leber congenital amaurosis 4

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 25, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV001124294.11

Allele description [Variation Report for NM_014336.5(AIPL1):c.970C>A (p.Arg324=)]

NM_014336.5(AIPL1):c.970C>A (p.Arg324=)

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.970C>A (p.Arg324=)
HGVS:
  • NC_000017.11:g.6425645G>T
  • NG_008474.1:g.14555C>A
  • NM_001033054.3:c.781C>A
  • NM_001033055.3:c.790C>A
  • NM_001285399.3:c.934C>A
  • NM_001285400.3:c.904C>A
  • NM_001285401.3:c.898C>A
  • NM_001285402.2:c.853C>A
  • NM_001285403.4:c.*941C>A
  • NM_014336.5:c.970C>AMANE SELECT
  • NP_001028226.1:p.Arg261=
  • NP_001028227.1:p.Arg264=
  • NP_001272328.1:p.Arg312=
  • NP_001272329.1:p.Arg302=
  • NP_001272330.1:p.Arg300=
  • NP_001272331.1:p.Arg285=
  • NP_055151.3:p.Arg324=
  • NC_000017.10:g.6328965G>T
  • NM_014336.3:c.970C>A
  • NM_014336.4:c.970C>A
Links:
dbSNP: rs375096209
NCBI 1000 Genomes Browser:
rs375096209
Molecular consequence:
  • NM_001285403.4:c.*941C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033054.3:c.781C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001033055.3:c.790C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285399.3:c.934C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285400.3:c.904C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285401.3:c.898C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001285402.2:c.853C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014336.5:c.970C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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
SCV001283229Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

Citation Link,

SCV001376148Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 25, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Illumina Laboratory Services, Illumina, SCV001283229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001376148.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024