NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) 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:
3 submissions [Details]
Record status:
current
Accession:
RCV000662283.3

Allele description [Variation Report for NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)]

NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)

Gene:
ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
HGVS:
  • NC_000011.10:g.108146356T>C
  • NG_009888.1:g.29826T>C
  • NG_009888.2:g.34652T>C
  • NM_000019.4:c.1160T>CMANE SELECT
  • NP_000010.1:p.Ile387Thr
  • LRG_1400t1:c.1160T>C
  • LRG_1400:g.34652T>C
  • LRG_1400p1:p.Ile387Thr
  • NC_000011.9:g.108017083T>C
  • NM_000019.3:c.1160T>C
Protein change:
I387T
Links:
dbSNP: rs748303093
NCBI 1000 Genomes Browser:
rs748303093
Molecular consequence:
  • NM_000019.4:c.1160T>C - 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
SCV000784611Yale Center for Mendelian Genomics,Yale Universityno assertion criteria providedPathogenic
(Jul 20, 2017)
biparentalliterature only

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

SCV000966120Department of Pediatrics, Gifu Universitycriteria provided, single submitter
Likely pathogenic
(May 5, 2019)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001461799Natera, Inc.no assertion criteria providedLikely pathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyes1not providednot providednot providednot providedliterature only
not providedgermlineyes11not providednot providedyesliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB.

JIMD Rep. 2018;39:45-54. doi: 10.1007/8904_2017_45. Epub 2017 Jul 20.

PubMed [citation]
PMID:
28726122
PMCID:
PMC5953889

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
See all PubMed Citations (3)

Details of each submission

From Yale Center for Mendelian Genomics,Yale University, SCV000784611.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

From Department of Pediatrics, Gifu University, SCV000966120.1

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

From Natera, Inc., SCV001461799.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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