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NM_000017.4(ACADS):c.449G>T (p.Gly150Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 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:
RCV000432974.1

Allele description [Variation Report for NM_000017.4(ACADS):c.449G>T (p.Gly150Val)]

NM_000017.4(ACADS):c.449G>T (p.Gly150Val)

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.449G>T (p.Gly150Val)
HGVS:
  • NC_000012.12:g.120737444G>T
  • NG_007991.1:g.16677G>T
  • NM_000017.4:c.449G>TMANE SELECT
  • NM_001302554.2:c.449G>T
  • NP_000008.1:p.Gly150Val
  • NP_001289483.1:p.Gly150Val
  • NC_000012.11:g.121175247G>T
  • NM_000017.2:c.449G>T
  • NM_000017.3:c.449G>T
Protein change:
G150V
Links:
dbSNP: rs1057524803
NCBI 1000 Genomes Browser:
rs1057524803
Molecular consequence:
  • NM_000017.4:c.449G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302554.2:c.449G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536496GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 17, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000536496.3

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

Description

The G150V variant has been reported in a single patient with short chain acyl-CoA dehydrogenase (SCAD) deficiency who also harbored the G209S reportable variant (B.T. van Maldegem, 2011). The G150V variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G150V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 29, 2024