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NM_000098.3(CPT2):c.725del (p.His242fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jul 18, 2017
Accession:
VCV000552913.1
Variation ID:
552913
Description:
1bp deletion
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NM_000098.3(CPT2):c.725del (p.His242fs)

Allele ID
541311
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p32.3
Genomic location
1: 53210399 (GRCh38) GRCh38 UCSC
1: 53676071 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.53676071del
NC_000001.11:g.53210399del
NM_000098.3:c.725del MANE Select NP_000089.1:p.His242fs frameshift
... more HGVS
Protein change
H242fs
Other names
-
Canonical SPDI
NC_000001.11:53210398:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553169666
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 18, 2017 RCV000668263.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CPT2 - - GRCh38
GRCh37
484 502

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 18, 2017)
criteria provided, single submitter
Method: clinical testing
Carnitine palmitoyltransferase II deficiency, infantile
Allele origin: unknown
Counsyl
Accession: SCV000792836.1
Submitted: (Jul 10, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1553169666...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 17, 2020