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NM_032228.6(FAR1):c.1439G>T (p.Arg480Leu) AND CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 20, 2021
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:
RCV001431540.1

Allele description [Variation Report for NM_032228.6(FAR1):c.1439G>T (p.Arg480Leu)]

NM_032228.6(FAR1):c.1439G>T (p.Arg480Leu)

Gene:
FAR1:fatty acyl-CoA reductase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.3
Genomic location:
Preferred name:
NM_032228.6(FAR1):c.1439G>T (p.Arg480Leu)
HGVS:
  • NC_000011.10:g.13728665G>T
  • NG_041826.1:g.65007G>T
  • NM_032228.6:c.1439G>TMANE SELECT
  • NP_115604.1:p.Arg480Leu
  • NC_000011.9:g.13750212G>T
  • NM_032228.5:c.1439G>T
Protein change:
R480L; ARG480LEU
Links:
OMIM: 616107.0006; dbSNP: rs1057517926
NCBI 1000 Genomes Browser:
rs1057517926
Molecular consequence:
  • NM_032228.6:c.1439G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001634298OMIM
no assertion criteria provided
Pathogenic
(May 20, 2021) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, et al.

Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Erratum in: Genet Med. 2021 Dec;23(12):2467.

PubMed [citation]
PMID:
33239752
PMCID:
PMC8026396

Details of each submission

From OMIM, SCV001634298.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with cataracts, spastic paraparesis, and speech delay (CSPSD; 619338), Ferdinandusse et al. (2021) identified a heterozygous c.1439G-T transversion (c.1439G-T, NM_032228.6) in the FAR1 gene, resulting in an arg480-to-leu (R480L) substitution in the transmembrane domain. The mutation, which was identified by whole-exome sequencing, was not present in the gnomAD database. Functional studies were not performed.

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

Last Updated: Mar 26, 2023