NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185689.3

Allele description [Variation Report for NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)]

NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)

Gene:
ACADS:acyl-CoA dehydrogenase short chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)
Other names:
R301W; p.R325W:CGG>TGG
HGVS:
  • NC_000012.12:g.120738859C>T
  • NG_007991.1:g.18092C>T
  • NM_000017.4:c.973C>TMANE SELECT
  • NM_001302554.2:c.961C>T
  • NP_000008.1:p.Arg325Trp
  • NP_001289483.1:p.Arg321Trp
  • NC_000012.11:g.121176662C>T
  • NM_000017.2:c.973C>T
  • NM_000017.3:c.973C>T
  • P16219:p.Arg325Trp
Protein change:
R321W; ARG301TRP
Links:
UniProtKB: P16219#VAR_013569; OMIM: 606885.0011; dbSNP: rs121908006
NCBI 1000 Genomes Browser:
rs121908006
Molecular consequence:
  • NM_000017.4:c.973C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302554.2:c.961C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238610GeneDxcriteria provided, single submitter
Pathogenic
(Aug 3, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238610.11

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

Description

The R325W missense variant in the ACADS gene has been reported previously in association with short chain acyl-CoA dehydrogenase (SCAD) deficiency (Corydon et al., 2001). Expression studies in E. coli found that the R325W variant is associated with undetectable SCAD enzyme activity (Corydon et al., 2001).

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

Last Updated: Mar 7, 2021

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