NM_030777.3(SLC2A10):c.961delG (p.Val321Cysfs) AND Arterial tortuosity syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 10, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000004848.4

Allele description [Variation Report for NM_030777.3(SLC2A10):c.961delG (p.Val321Cysfs)]

NM_030777.3(SLC2A10):c.961delG (p.Val321Cysfs)

Gene:
SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_030777.3(SLC2A10):c.961delG (p.Val321Cysfs)
HGVS:
  • NC_000020.11:g.46725997delG
  • NG_016284.1:g.21358delG
  • NM_030777.3:c.961delG
  • NP_110404.1:p.Val321Cysfs
  • NC_000020.10:g.45354636delG
  • NP_110404.1:p.Val321fs
Links:
OMIM: 606145.0002; dbSNP: 587776599
NCBI 1000 Genomes Browser:
rs587776599
Molecular consequence:
  • NM_030777.3:c.961delG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025024OMIMno assertion criteria providedPathogenic
(Apr 1, 2006)
germlineliterature only

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

SCV000195664GeneReviewsno assertion criteria providedPathogenic
(Sep 10, 2014)
germlineliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.

Nat Genet. 2006 Apr;38(4):452-7. Epub 2006 Mar 19.

PubMed [citation]
PMID:
16550171

Details of each submission

From OMIM, SCV000025024.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family originating from Morocco, Coucke et al. (2006) found that arterial tortuosity syndrome (208050) was caused by a 961delG mutation in the SLC2A10 gene, resulting in a frameshift (Val321fsTer391).

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

From GeneReviews, SCV000195664.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2018