U.S. flag

An official website of the United States government

NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2021
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:
RCV002336533.2

Allele description [Variation Report for NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)]

NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)

Gene:
SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)
Other names:
p.F168L:TTC>TTA
HGVS:
  • NC_000020.11:g.46725540C>A
  • NG_016284.1:g.20901C>A
  • NM_030777.4:c.504C>AMANE SELECT
  • NP_110404.1:p.Phe168Leu
  • NC_000020.10:g.45354179C>A
  • NM_030777.3:c.504C>A
Protein change:
F168L
Links:
dbSNP: rs540023880
NCBI 1000 Genomes Browser:
rs540023880
Molecular consequence:
  • NM_030777.4:c.504C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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
SCV002641858Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.

Zimmermann MT, Urrutia R, Cousin MA, Oliver GR, Klee EW.

Front Genet. 2018;9:276. doi: 10.3389/fgene.2018.00276.

PubMed [citation]
PMID:
30090112
PMCID:
PMC6068234

Details of each submission

From Ambry Genetics, SCV002641858.2

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

Description

The p.F168L variant (also known as c.504C>A), located in coding exon 2 of the SLC2A10 gene, results from a C to A substitution at nucleotide position 504. The phenylalanine at codon 168 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species; however, leucine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024