NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 9, 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:: RCV002310623.9

Allele description [Variation Report for NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)]

NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)

Gene:

SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)

HGVS:

NC_000020.10:g.45355548delG
NC_000020.11:g.46726909del
NG_016284.1:g.22270del
NM_030777.4:c.1334delMANE SELECT
NP_110404.1:p.Gly445fs
NC_000020.10:g.45355547del
NC_000020.10:g.45355548del
NC_000020.10:g.45355548delG
NC_000020.11:g.46726909delG
NM_030777.3:c.1334delG
NM_030777.4:c.1334delGMANE SELECT
NP_110404.1:p.Gly445fsTer40
p.G445EfsX40

Protein change:

G445fs

Links:

OMIM: 606145.0003; dbSNP: rs587776600

NCBI 1000 Genomes Browser:

rs587776600

Molecular consequence:

NM_030777.4:c.1334del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000319330	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 9, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16550171, 17935213 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000319330

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 9, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM.

Hum Mutat. 2008 Jan;29(1):150-8.

PubMed [citation]

PMID:: 17935213

Details of each submission

From Ambry Genetics, SCV000319330.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.1334delG pathogenic mutation, located in coding exon 3 of the SLC2A10 gene, results from a deletion of one nucleotide at nucleotide position 1334, causing a translational frameshift with a predicted alternate stop codon (p.G445Efs*40). This mutation was reported in association with arterial tortuosity syndrome (ATS) in the homozygous state in an Italian family with consanguinity (Coucke PJ et al. Nat Genet. 2006;38(4):452-7). This recurrent mutation, which is in the endofacial loop between TMD10 and TMD11, was also reported in four European families each in compound heterozygosity with another mutation (Callewaert BL et al. Hum Mutat. 2008;29(1):150-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine