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NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) AND not provided

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:
Feb 10, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000723488.16

Allele description [Variation Report for NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)]

NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)

Gene:
CPT1A:carnitine palmitoyltransferase 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)
HGVS:
  • NC_000011.10:g.68815375A>G
  • NG_011801.1:g.31557T>C
  • NM_001031847.3:c.100T>C
  • NM_001876.4:c.100T>CMANE SELECT
  • NP_001027017.1:p.Ser34Pro
  • NP_001867.2:p.Ser34Pro
  • NC_000011.9:g.68582843A>G
  • NM_001876.3:c.100T>C
Protein change:
S34P
Links:
dbSNP: rs398123653
NCBI 1000 Genomes Browser:
rs398123653
Molecular consequence:
  • NM_001031847.3:c.100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001876.4:c.100T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
15

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000111793Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)		Uncertain significance
(Jul 20, 2018) 		germlineclinical testing

Citation Link,

SCV000589320GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Feb 10, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown15not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111793.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided15not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided15not providednot providednot provided

From GeneDx, SCV000589320.3

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35822099)

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

Last Updated: May 3, 2025