NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) AND Epileptic spasm

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001526622.1

Allele description [Variation Report for NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)]

NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
Other names:
p.D266G:GAC>GGC
HGVS:
  • NC_000001.11:g.75749507A>G
  • NG_007045.2:g.30150A>G
  • NM_000016.6:c.797A>GMANE SELECT
  • NM_000016.6:c.797A>G
  • NM_001127328.3:c.809A>G
  • NM_001286042.2:c.689A>G
  • NM_001286043.2:c.896A>G
  • NM_001286044.2:c.230A>G
  • NP_000007.1:p.Asp266Gly
  • NP_000007.1:p.Asp266Gly
  • NP_001120800.1:p.Asp270Gly
  • NP_001272971.1:p.Asp230Gly
  • NP_001272972.1:p.Asp299Gly
  • NP_001272972.1:p.Asp299Gly
  • NP_001272973.1:p.Asp77Gly
  • LRG_838t1:c.797A>G
  • LRG_838:g.30150A>G
  • LRG_838p1:p.Asp266Gly
  • NC_000001.10:g.76215192A>G
  • NM_000016.4:c.797A>G
  • NM_000016.5:c.797A>G
  • NM_001127328.1:c.809A>G
  • NM_001286043.1:c.896A>G
Protein change:
D230G
Links:
dbSNP: rs201375579
NCBI 1000 Genomes Browser:
rs201375579
Molecular consequence:
  • NM_000016.6:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127328.3:c.809A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286042.2:c.689A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286043.2:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286044.2:c.230A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epileptic spasm
Synonyms:
Epileptic spasms
Identifiers:
MedGen: C1527366; Human Phenotype Ontology: HP:0011097

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001737052Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Likely pathogenicpaternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

Compound heterozygous (other variant: PED8865.11), both variants inherited from one parent

SCV001737052

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001737052.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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