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NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 20, 2014
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:
RCV000622725.4

Allele description [Variation Report for NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn)]

NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn)

Gene:
ACSL4:acyl-CoA synthetase long chain family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn)
HGVS:
  • NC_000023.11:g.109663232C>T
  • NG_008053.1:g.75161G>A
  • NM_001318509.2:c.1684G>A
  • NM_001318510.2:c.1561G>AMANE SELECT
  • NM_004458.3:c.1561G>A
  • NM_022977.3:c.1684G>A
  • NP_001305438.1:p.Asp562Asn
  • NP_001305439.1:p.Asp521Asn
  • NP_004449.1:p.Asp521Asn
  • NP_075266.1:p.Asp562Asn
  • NC_000023.10:g.108906461C>T
  • NM_004458.2:c.1561G>A
Protein change:
D521N
Links:
dbSNP: rs1556225792
NCBI 1000 Genomes Browser:
rs1556225792
Molecular consequence:
  • NM_001318509.2:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318510.2:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004458.3:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022977.3:c.1684G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000740725Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 20, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000740725.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1561G>A (p.D521N) alteration is located in exon 13 (coding exon 11) of the ACSL4 gene. This alteration results from a G to A substitution at nucleotide position 1561, causing the aspartic acid (D) at amino acid position 521 to be replaced by an asparagine (N). The alteration is not observed in healthy cohorts:_x000D_ Based on data from the NHLBI Exome Sequencing Project (ESP), the ACSL4/FACL4 c.1561G>A alteration was not observed among 6,780 individuals tested. Allele frequency data for this nucleotide position are not currently available from the 1000 Genomes Project and the alteration is not currently listed in the Database of Single Nucleotide Polymorphisms (dbSNP). Though some variants may appear to be rare due to database-specific ethnic underrepresentation, rare missense alleles commonly exhibit a deleterious effect on protein function (Kryukov, 2007; Tennessen, 2012). IF USED, PULL THESE INTO REFERENCES:_x000D_ Kryukov GV, et al. (2007) Am J Hum Genet 80:727-739. Tennessen JA, et al. (2012) Science 337(64):64-69. This amino acid position is completely conserved on sequence alignment in available vertibrate species. The amino acid is located in a functionally important protein domain:_x000D_ The p.521D amino acid is located in the AMP-dependent synthetase/ligase domain of the protein. The alteration is predicted deleterious by in silico models:_x000D_ The p.D521N alteration is predicted to be probably damaging by Polyphen and deleterious by SIFT in silico analyses. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Apr 20, 2024