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NM_000387.6(SLC25A20):c.199-10T>G AND SLC25A20-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 23, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004757104.1

Allele description [Variation Report for NM_000387.6(SLC25A20):c.199-10T>G]

NM_000387.6(SLC25A20):c.199-10T>G

Gene:
SLC25A20:solute carrier family 25 member 20 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000387.6(SLC25A20):c.199-10T>G
HGVS:
  • NC_000003.12:g.48884134A>C
  • NG_008171.1:g.19763T>G
  • NM_000387.6:c.199-10T>GMANE SELECT
  • NC_000003.11:g.48921567A>C
  • NM_000387.5:c.199-10T>G
Nucleotide change:
IVS2AS, T-G, -10
Links:
OMIM: 613698.0006; dbSNP: rs541208710
NCBI 1000 Genomes Browser:
rs541208710
Molecular consequence:
  • NM_000387.6:c.199-10T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
SLC25A20-related disorder
Synonyms:
SLC25A20-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005358930PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 23, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005358930.1

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

Description

The SLC25A20 c.199-10T>G variant is predicted to interfere with splicing. This variant has been reported in the compound heterozygous and homozygous state in multiple patients with autosomal recessive carnitine-acylcarnitine translocase deficiency (Ogawa et al. 2000. PubMed ID: 10697964, Tang et al. 2019. PubMed ID: 31108048, Vatanavicharn et al. 2015. PubMed ID: 25459972). RNA studies showed that this variant leads to aberrant splicing and truncation of the protein (Ogawa et al. 2000. PubMed ID: 10697964). This variant is reported in 0.095% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024