NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) AND Arterial tortuosity syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 10, 2014
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:: RCV000202558.1

Allele description

NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)

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.1330C>T (p.Arg444Ter)

HGVS:

NC_000020.11:g.46726905C>T
NG_016284.1:g.22266C>T
NM_030777.4:c.1330C>T
NP_110404.1:p.Arg444Ter
NP_110404.1:p.Arg444Ter
NP_110404.1:p.Arg444Ter
NC_000020.10:g.45355544C>T
NM_030777.3:c.1330C>T

Protein change:

R444*

Links:

dbSNP: rs370547023

NCBI 1000 Genomes Browser:

rs370547023

Molecular consequence:

NM_030777.4:c.1330C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Arterial tortuosity syndrome (ATORS)
Identifiers:: MedGen: C1859726; Orphanet: 3342; OMIM: 208050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000195655	GeneReviews	no assertion criteria provided	Pathogenic (Sep 10, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000195655

GeneReviews

no assertion criteria provided

Pathogenic
(Sep 10, 2014)

germline

literature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.

Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M.

Am J Med Genet A. 2007 Jan 15;143A(2):216-8. No abstract available.

PubMed [citation]

PMID:: 17163528

Details of each submission

From GeneReviews, SCV000195655.1

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

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

Last Updated: Feb 11, 2020

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