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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 3, 2017
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:: 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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000238610	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 3, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000238610

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 3, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000238610.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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