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NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter) AND Hereditary spastic paraplegia 73

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 13, 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:
RCV003887842.1

Allele description [Variation Report for NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter)]

NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter)

Gene:
CPT1C:carnitine palmitoyltransferase 1C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter)
HGVS:
  • NC_000019.10:g.49705989C>T
  • NG_050570.1:g.20112C>T
  • NM_001136052.3:c.1012C>T
  • NM_001199752.3:c.1045C>T
  • NM_001199753.2:c.1045C>TMANE SELECT
  • NM_001378482.1:c.1111C>T
  • NM_001378483.1:c.1045C>T
  • NM_001378484.1:c.1045C>T
  • NM_001378485.1:c.1012C>T
  • NM_001378486.1:c.1045C>T
  • NM_001378487.1:c.1012C>T
  • NM_001378488.1:c.1045C>T
  • NM_152359.3:c.1045C>T
  • NP_001129524.1:p.Arg338Ter
  • NP_001186681.1:p.Arg349Ter
  • NP_001186682.1:p.Arg349Ter
  • NP_001365411.1:p.Arg371Ter
  • NP_001365412.1:p.Arg349Ter
  • NP_001365413.1:p.Arg349Ter
  • NP_001365414.1:p.Arg338Ter
  • NP_001365415.1:p.Arg349Ter
  • NP_001365416.1:p.Arg338Ter
  • NP_001365417.1:p.Arg349Ter
  • NP_689572.1:p.Arg349Ter
  • NC_000019.9:g.50209246C>T
  • NR_108072.2:n.1515C>T
Protein change:
R338*
Molecular consequence:
  • NR_108072.2:n.1515C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001136052.3:c.1012C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001199752.3:c.1045C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001199753.2:c.1045C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378482.1:c.1111C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378483.1:c.1045C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378484.1:c.1045C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378485.1:c.1012C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378486.1:c.1045C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378487.1:c.1012C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001378488.1:c.1045C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152359.3:c.1045C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary spastic paraplegia 73
Synonyms:
Spastic paraplegia 73, autosomal dominant
Identifiers:
MONDO: MONDO:0014568; MedGen: C5568981; Orphanet: 444099; OMIM: 616282

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004704534Human Genetics Bochum, Ruhr University Bochum
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 13, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Human Genetics Bochum, Ruhr University Bochum, SCV004704534.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG criteria used to clasify this variant: PVS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024