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NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln) AND Decreased plasma carnitine

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2020
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:
RCV002226539.2

Allele description

NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln)

Gene:
SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln)
Other names:
p.Arg85Gln
HGVS:
  • NC_000005.10:g.132370226G>A
  • NG_008982.2:g.5523G>A
  • NM_001308122.2:c.254G>A
  • NM_003060.4:c.254G>AMANE SELECT
  • NP_001295051.1:p.Arg85Gln
  • NP_003051.1:p.Arg85Gln
  • NC_000005.9:g.131705918G>A
  • NG_008982.1:g.5518G>A
Protein change:
R85Q
Links:
dbSNP: rs761608940
NCBI 1000 Genomes Browser:
rs761608940
Molecular consequence:
  • NM_001308122.2:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003060.4:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Decreased plasma carnitine
Synonyms:
Carnitine deficiency
Identifiers:
MedGen: C1142132; Human Phenotype Ontology: HP:0003234

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002078288Natera, Inc.
no assertion criteria provided
Uncertain significance
(May 28, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002078288.1

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

Last Updated: Aug 26, 2023