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NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser) AND Rigid spine syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 20, 2023
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:
RCV003986062.1

Allele description [Variation Report for NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)]

NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)

Gene:
HMGCS1:3-hydroxy-3-methylglutaryl-CoA synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p12
Genomic location:
Preferred name:
NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)
HGVS:
  • NC_000005.10:g.43295854C>G
  • NM_001098272.3:c.803G>CMANE SELECT
  • NM_001324219.2:c.803G>C
  • NM_001324220.2:c.803G>C
  • NM_001324222.2:c.677G>C
  • NM_001324223.2:c.677G>C
  • NM_001324224.2:c.677G>C
  • NM_001330663.2:c.803G>C
  • NM_001364188.2:c.803G>C
  • NM_002130.8:c.803G>C
  • NP_001091742.1:p.Cys268Ser
  • NP_001311148.1:p.Cys268Ser
  • NP_001311149.1:p.Cys268Ser
  • NP_001311151.1:p.Cys226Ser
  • NP_001311152.1:p.Cys226Ser
  • NP_001311153.1:p.Cys226Ser
  • NP_001317592.1:p.Cys268Ser
  • NP_001351117.1:p.Cys268Ser
  • NP_002121.4:p.Cys268Ser
  • NC_000005.9:g.43295956C>G
  • NM_001098272.2:c.803G>C
Protein change:
C226S
Molecular consequence:
  • NM_001098272.3:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324219.2:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324220.2:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324222.2:c.677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324223.2:c.677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001324224.2:c.677G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330663.2:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364188.2:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002130.8:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rigid spine syndrome (RSS)
Synonyms:
rigid spine congenital muscular dystrophy
Identifiers:
MONDO: MONDO:0019951; MedGen: CN293569

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004036165Harry Perkins Institute Of Medical Research, University Of Western Australia
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 20, 2023) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

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 Harry Perkins Institute Of Medical Research, University Of Western Australia, SCV004036165.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024