NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 1, 2023
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:: RCV000606630.3

Allele description [Variation Report for NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)]

NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)

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.648C>G (p.Tyr216Ter)

HGVS:

NC_000020.11:g.46725684C>G
NG_016284.1:g.21045C>G
NM_030777.4:c.648C>GMANE SELECT
NP_110404.1:p.Tyr216Ter
NC_000020.10:g.45354323C>G
NM_030777.3:c.648C>G

Protein change:

Y216*

Links:

dbSNP: rs1015798796

NCBI 1000 Genomes Browser:

rs1015798796

Molecular consequence:

NM_030777.4:c.648C>G - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000731225	Centre for Genomic and Experimental Medicine, University of Edinburgh	no assertion criteria provided	Pathogenic	unknown	research
SCV003912603	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 1, 2023)	germline	clinical testing	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

SCV000731225

Centre for Genomic and Experimental Medicine, University of Edinburgh

no assertion criteria provided

Pathogenic

unknown

research

SCV003912603

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 1, 2023)

germline

clinical testing

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team., Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ.

Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15.

PubMed [citation]

PMID:: 29543232
PMCID:: PMC6004315

Details of each submission

From Centre for Genomic and Experimental Medicine, University of Edinburgh, SCV000731225.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

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

From Ambry Genetics, SCV003912603.2

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

Description

The p.Y216* pathogenic mutation (also known as c.648C>G), located in coding exon 2 of the SLC2A10 gene, results from a C to G substitution at nucleotide position 648. This changes the amino acid from a tyrosine to a stop codon within coding exon 2. This variant has been detected in an individual with aortic aneurysm who also had a variant in the MYH11 gene (Weerakkody R et al. Genet Med, 2018 Nov;20:1414-1422). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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: Sep 29, 2024

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