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NM_004744.5(LRAT):c.316G>A (p.Ala106Thr) AND Leber congenital amaurosis 14

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2021
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:
RCV001376402.1

Allele description [Variation Report for NM_004744.5(LRAT):c.316G>A (p.Ala106Thr)]

NM_004744.5(LRAT):c.316G>A (p.Ala106Thr)

Gene:
LRAT:lecithin retinol acyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004744.5(LRAT):c.316G>A (p.Ala106Thr)
HGVS:
  • NC_000004.12:g.154744642G>A
  • NG_009110.1:g.5632G>A
  • NM_001301645.2:c.316G>A
  • NM_004744.5:c.316G>AMANE SELECT
  • NP_001288574.1:p.Ala106Thr
  • NP_004735.2:p.Ala106Thr
  • NC_000004.11:g.155665794G>A
  • NM_004744.3:c.316G>A
Protein change:
A106T
Links:
dbSNP: rs920685564
NCBI 1000 Genomes Browser:
rs920685564
Molecular consequence:
  • NM_001301645.2:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004744.5:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leber congenital amaurosis 14 (LCA14)
Identifiers:
MONDO: MONDO:0013231; MedGen: C2750063; OMIM: 613341

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001573526Ocular Genomics Institute, Massachusetts Eye and Ear
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 8, 2021) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.

Invest Ophthalmol Vis Sci. 2012 Jun 22;53(7):3927-38. doi: 10.1167/iovs.12-9548.

PubMed [citation]
PMID:
22570351

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573526.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)

Description

The LRAT c.316G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, BP4. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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

Last Updated: Dec 24, 2023