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NM_014336.5(AIPL1):c.268G>C (p.Asp90His) AND Leber congenital amaurosis 1

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000989686.9

Allele description [Variation Report for NM_014336.5(AIPL1):c.268G>C (p.Asp90His)]

NM_014336.5(AIPL1):c.268G>C (p.Asp90His)

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.268G>C (p.Asp90His)
HGVS:
  • NC_000017.11:g.6433927C>G
  • NG_008474.1:g.6273G>C
  • NM_001033054.3:c.268G>C
  • NM_001033055.3:c.96+1082G>C
  • NM_001285399.3:c.232G>C
  • NM_001285400.3:c.202G>C
  • NM_001285401.3:c.268G>C
  • NM_001285402.2:c.151G>C
  • NM_001285403.4:c.268G>C
  • NM_014336.5:c.268G>CMANE SELECT
  • NP_001028226.1:p.Asp90His
  • NP_001272328.1:p.Asp78His
  • NP_001272329.1:p.Asp68His
  • NP_001272330.1:p.Asp90His
  • NP_001272331.1:p.Asp51His
  • NP_001272332.1:p.Asp90His
  • NP_055151.3:p.Asp90His
  • NC_000017.10:g.6337247C>G
  • NM_014336.3:c.268G>C
  • NM_014336.4:c.268G>C
  • Q9NZN9:p.Asp90His
Protein change:
D51H
Links:
UniProtKB: Q9NZN9#VAR_010140; dbSNP: rs12449580
NCBI 1000 Genomes Browser:
rs12449580
Molecular consequence:
  • NM_001033055.3:c.96+1082G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001033054.3:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285399.3:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285400.3:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285401.3:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285402.2:c.151G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001285403.4:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014336.5:c.268G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leber congenital amaurosis 1 (LCA1)
Synonyms:
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001140221Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140221.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024