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ELN, IVS15AS, A-G, -2 AND Supravalvar aortic stenosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1997
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:
RCV000018205.28

Allele description

ELN, IVS15AS, A-G, -2

Gene:
ELN:elastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.2
Preferred name:
ELN, IVS15AS, A-G, -2
HGVS:
    Nucleotide change:
    IVS15AS, A-G, -2
    Links:
    OMIM: 130160.0006

    Condition(s)

    Name:
    Supravalvar aortic stenosis (SVAS)
    Synonyms:
    Supravalvar aortic stenosis, Eisenberg type
    Identifiers:
    MONDO: MONDO:0008504; MedGen: C0003499; Orphanet: 3193; OMIM: 185500; Human Phenotype Ontology: HP:0004381

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000038484OMIM
    no assertion criteria provided
    		Pathogenic
    (Jul 1, 1997)     		germlineliterature only

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

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

    Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT.

    Hum Mol Genet. 1997 Jul;6(7):1021-8.

    PubMed [citation]
    PMID:
    9215670

    Details of each submission

    From OMIM, SCV000038484.2

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

    Description

    In 2 unrelated kindreds, Li et al. (1997) found that SVAS (185500) segregated with an A-to-G transition at position -2 in the splice acceptor site of intron 15 preceding exon 16.

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

    Last Updated: Apr 18, 2020