U.S. flag

An official website of the United States government

NM_006517.5(SLC16A2):c.202G>T (p.Glu68Ter) AND Spastic paraplegia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 15, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001067766.6

Allele description [Variation Report for NM_006517.5(SLC16A2):c.202G>T (p.Glu68Ter)]

NM_006517.5(SLC16A2):c.202G>T (p.Glu68Ter)

Gene:
SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.2
Genomic location:
Preferred name:
NM_006517.5(SLC16A2):c.202G>T (p.Glu68Ter)
HGVS:
  • NC_000023.11:g.74421839G>T
  • NG_011641.2:g.5590G>T
  • NM_006517.5:c.202G>TMANE SELECT
  • NP_006508.2:p.Glu68Ter
  • NC_000023.10:g.73641674G>T
  • NG_011641.1:g.5590G>T
  • NM_006517.4:c.202G>T
Protein change:
E68*
Links:
dbSNP: rs1034820850
NCBI 1000 Genomes Browser:
rs1034820850
Molecular consequence:
  • NM_006517.5:c.202G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Spastic paraplegia
Identifiers:
MedGen: C0037772; Human Phenotype Ontology: HP:0001258

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001232845Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 15, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genetics and phenomics of thyroid hormone transport by MCT8.

Friesema EC, Visser WE, Visser TJ.

Mol Cell Endocrinol. 2010 Jun 30;322(1-2):107-13. doi: 10.1016/j.mce.2010.01.016. Epub 2010 Jan 18. Review.

PubMed [citation]
PMID:
20083155

Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.

Fischer J, Kleinau G, Müller A, Kühnen P, Zwanziger D, Kinne A, Rehders M, Moeller LC, Führer D, Grüters A, Krude H, Brix K, Biebermann H.

J Mol Endocrinol. 2015 Feb;54(1):39-50. doi: 10.1530/JME-14-0272.

PubMed [citation]
PMID:
25527620
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001232845.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC16A2 are known to be pathogenic (PMID: 20083155, 25527620). This variant has not been reported in the literature in individuals with SLC16A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu68*) in the SLC16A2 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024