NM_000017.4(ACADS):c.1095G>T (p.Gln365His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185694.4

Allele description [Variation Report for NM_000017.4(ACADS):c.1095G>T (p.Gln365His)]

NM_000017.4(ACADS):c.1095G>T (p.Gln365His)

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.1095G>T (p.Gln365His)
Other names:
p.Q365H:CAG>CAT
HGVS:
  • NC_000012.12:g.120739304G>T
  • NG_007991.1:g.18537G>T
  • NM_000017.4:c.1095G>TMANE SELECT
  • NM_001302554.2:c.1083G>T
  • NP_000008.1:p.Gln365His
  • NP_001289483.1:p.Gln361His
  • NC_000012.11:g.121177107G>T
  • NM_000017.2:c.1095G>T
  • NM_000017.3:c.1095G>T
Protein change:
Q361H
Links:
dbSNP: rs368469075
NCBI 1000 Genomes Browser:
rs368469075
Molecular consequence:
  • NM_000017.4:c.1095G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302554.2:c.1083G>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
SCV000238615GeneDxcriteria provided, single submitter
Pathogenic
(Mar 6, 2018)
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, SCV000238615.13

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

Description

The Q365H variant has previously been reported in association with short chain acyl-CoAdehydrogenase (SCAD) deficiency (Seidel et al., 2003). Functional analysis of Q365H found that it is associated with reduced tetramer formation, increased aggregation tendency, and increased chaperone retention compared to wild-type, similar to other pathogenic variants in the ACADS gene (Seidel et al., 2003; Pedersen et al., 2008). Therefore, we interpret Q365H to be a pathogenic variant.

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

Last Updated: Mar 22, 2021

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