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NM_005518.4(HMGCS2):c.1347_1351del (p.Ala450fs) AND 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 28, 2020
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:
RCV001530187.2

Allele description [Variation Report for NM_005518.4(HMGCS2):c.1347_1351del (p.Ala450fs)]

NM_005518.4(HMGCS2):c.1347_1351del (p.Ala450fs)

Gene:
HMGCS2:3-hydroxy-3-methylglutaryl-CoA synthase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p12
Genomic location:
Preferred name:
NM_005518.4(HMGCS2):c.1347_1351del (p.Ala450fs)
HGVS:
  • NC_000001.11:g.119752622_119752626del
  • NG_013348.1:g.21311_21315del
  • NM_001166107.1:c.1221_1225del
  • NM_005518.4:c.1347_1351delMANE SELECT
  • NP_001159579.1:p.Ala408fs
  • NP_005509.1:p.Ala450fs
  • LRG_447t1:c.1347_1351del
  • LRG_447t2:c.1221_1225del
  • LRG_447:g.21311_21315del
  • LRG_447p2:p.Ala408fs
  • NC_000001.10:g.120295245_120295249del
  • NM_005518.3:c.1347_1351delAGCCT
Protein change:
A408fs
Links:
dbSNP: rs2101248147
NCBI 1000 Genomes Browser:
rs2101248147
Molecular consequence:
  • NM_001166107.1:c.1221_1225del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005518.4:c.1347_1351del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D)
Synonyms:
HMGCS2 DEFICIENCY; MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY; mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011614; MedGen: C2751532; Orphanet: 35701; OMIM: 605911

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001739472Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 28, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East asiagermlineyes1not 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 Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital, SCV001739472.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East asia1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023