U.S. flag

An official website of the United States government

NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 8, 2015
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:
RCV002310718.8

Allele description [Variation Report for NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)]

NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)

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.313C>T (p.Arg105Cys)
HGVS:
  • NC_000020.11:g.46725349C>T
  • NG_016284.1:g.20710C>T
  • NM_030777.4:c.313C>TMANE SELECT
  • NP_110404.1:p.Arg105Cys
  • NP_110404.1:p.Arg105Cys
  • NC_000020.10:g.45353988C>T
  • NM_030777.3:c.313C>T
Protein change:
R105C
Links:
dbSNP: rs767864243
NCBI 1000 Genomes Browser:
rs767864243
Molecular consequence:
  • NM_030777.4:c.313C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000319646Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(May 8, 2015) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS.

Atherosclerosis. 2009 Apr;203(2):466-71. doi: 10.1016/j.atherosclerosis.2008.07.026. Epub 2008 Aug 5.

PubMed [citation]
PMID:
18774132

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Hardin JS, Zarate YA, Callewaert B, Phillips PH, Warner DB.

Ophthalmic Genet. 2018 Jan-Feb;39(1):29-34. doi: 10.1080/13816810.2017.1335332. Epub 2017 Jul 20.

PubMed [citation]
PMID:
28726533

Details of each submission

From Ambry Genetics, SCV000319646.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.R105C pathogenic mutation (also known as c.313C>T), located in coding exon 2 of the SLC2A10 gene, results from a C to T substitution at nucleotide position 313. The arginine at codon 105 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant has been described in a consanguineous Saudi Arabian family in which one individual was affected with arterial tortuosity syndrome (ATS). The affected individual was homozygous for the variant and both of his unaffected parents were confirmed to be heterozygous (Faiyaz-Ul-Haque M et al. Atherosclerosis 2009;203(2):466-71). This alteration has also been reported in a second individual with ATS in the compound heterozygous state with the recurrent SLC2A10 nonsense mutation p.G445Efs*40 (Hardin JS et al. Ophthalmic Genet. 2018;39:29-34). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 26, 2024