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NM_000098.3(CPT2):c.921_923del (p.Met307_Ser308delinsIle) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 18, 2021
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:
RCV002538158.3

Allele description [Variation Report for NM_000098.3(CPT2):c.921_923del (p.Met307_Ser308delinsIle)]

NM_000098.3(CPT2):c.921_923del (p.Met307_Ser308delinsIle)

Gene:
CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_000098.3(CPT2):c.921_923del (p.Met307_Ser308delinsIle)
HGVS:
  • NC_000001.11:g.53210595_53210597del
  • NG_008035.1:g.19167_19169del
  • NM_000098.3:c.921_923delMANE SELECT
  • NM_001330589.2:c.921_923del
  • NP_000089.1:p.Met307_Ser308delinsIle
  • NP_001317518.1:p.Met307_Ser308delinsIle
  • NC_000001.10:g.53676267_53676269del
  • NM_000098.2:c.921_923del
  • NM_000098.2:c.921_923delGAG
  • NM_000098.3:c.921_923delGAGMANE SELECT
Links:
dbSNP: rs751090469
NCBI 1000 Genomes Browser:
rs751090469
Molecular consequence:
  • NM_000098.3:c.921_923del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001330589.2:c.921_923del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003592507Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 18, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003592507.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.921_923delGAG (p.M307_S308delinsI) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.921 and c.923, resulting in the deletion of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 20, 2024