NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn) AND Deficiency of acetyl-CoA acetyltransferase

Clinical significance:Likely pathogenic (Last evaluated: May 5, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000844799.1

Allele description [Variation Report for NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)]

NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)

Gene:
ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)
HGVS:
  • NC_000011.10:g.108140128_108140129delinsAA
  • NG_009888.1:g.23598_23599delinsAA
  • NG_009888.2:g.28424_28425delinsAA
  • NM_000019.4:c.643_644delinsAAMANE SELECT
  • NP_000010.1:p.Ala215Asn
  • LRG_1400t1:c.643_644delinsAA
  • LRG_1400:g.28424_28425delinsAA
  • LRG_1400p1:p.Ala215Asn
  • NC_000011.9:g.108010855_108010856delinsAA
  • NM_000019.3:c.643_644delinsAA
Protein change:
A215N
Links:
dbSNP: rs1591368794
NCBI 1000 Genomes Browser:
rs1591368794
Molecular consequence:
  • NM_000019.4:c.643_644delinsAA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of acetyl-CoA acetyltransferase
Synonyms:
Alpha-methylacetoaceticaciduria; 2-methyl-3-hydroxybutyricacidemia; Mitochondrial acetoacetyl-CoA Thiolase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008760; MedGen: C1536500; Orphanet: 134; OMIM: 203750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000966072Department of Pediatrics, Gifu Universitycriteria provided, single submitter
Likely pathogenic
(May 5, 2019)
germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providedyesresearch

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

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.

Abdelkreem E, Akella RRD, Dave U, Sane S, Otsuka H, Sasai H, Aoyama Y, Nakama M, Ohnishi H, Mahmoud S, Abd El Aal M, Fukao T.

JIMD Rep. 2017;35:59-65. doi: 10.1007/8904_2016_26. Epub 2016 Dec 8.

PubMed [citation]
PMID:
27928777
PMCID:
PMC5585108
See all PubMed Citations (3)

Details of each submission

From Department of Pediatrics, Gifu University, SCV000966072.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (3)
2not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided
2germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 6, 2020

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