NM_003060.4(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219fs) AND Renal carnitine transport defect

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 18, 1998
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:: RCV000006783.5

Allele description [Variation Report for NM_003060.4(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219fs)]

NM_003060.4(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219fs)

Gene:

SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_003060.4(SLC22A5):c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219fs)

HGVS:

NC_000005.10:g.132385328_132385329insTATGGCCATCAGGTTGGAG
NG_008982.2:g.20625_20626insTATGGCCATCAGGTTGGAG
NM_001308122.2:c.725_726insTATGGCCATCAGGTTGGAG
NM_003060.4:c.653_654insTATGGCCATCAGGTTGGAGMANE SELECT
NP_001295051.1:p.Thr243fs
NP_003051.1:p.Thr219fs
NC_000005.9:g.131721020_131721021insTATGGCCATCAGGTTGGAG
NM_003060.3:c.653_654insTATGGCCATCAGGTTGGAG

Note:

NCBI staff reviewed the sequence information reported in PubMed 9826541 Fig. 1 to determine the location of this allele on the current reference sequence.

Protein change:

T219fs

Links:

OMIM: 603377.0006; dbSNP: rs1554087461

NCBI 1000 Genomes Browser:

rs1554087461

Molecular consequence:

NM_001308122.2:c.725_726insTATGGCCATCAGGTTGGAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003060.4:c.653_654insTATGGCCATCAGGTTGGAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Renal carnitine transport defect (CDSP)
Synonyms:: CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Primary carnitine deficiency; Carnitine uptake defect; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008919; MedGen: C0342788; Orphanet: 158; OMIM: 212140

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026979	OMIM	no assertion criteria provided	Pathogenic (Nov 18, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026979

OMIM

no assertion criteria provided

Pathogenic
(Nov 18, 1998)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene.

Lamhonwah AM, Tein I.

Biochem Biophys Res Commun. 1998 Nov 18;252(2):396-401.

PubMed [citation]

PMID:: 9826541

Details of each submission

From OMIM, SCV000026979.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 19-bp insertion between nucleotides 874 and 875 in the SLC22A5 gene that was found in compound heterozygous state in a patient with carnitine uptake defect (CDSP; 212140) by Lamhonwah and Tein (1998), see 603377.0005.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2022

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