NM_000501.4(ELN):c.59del (p.Ile20fs) AND Supravalvar aortic stenosis

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 2, 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:: RCV003319579.1

Allele description

NM_000501.4(ELN):c.59del (p.Ile20fs)

Gene:

ELN:elastin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q11.23

Genomic location:

Preferred name:

NM_000501.4(ELN):c.59del (p.Ile20fs)

HGVS:

NC_000007.14:g.74028246del
NG_009261.1:g.5150del
NM_000501.4:c.59delMANE SELECT
NM_001081752.3:c.59del
NM_001081753.3:c.59del
NM_001081754.3:c.59del
NM_001081755.3:c.59del
NM_001278912.2:c.59del
NM_001278913.2:c.59del
NM_001278914.2:c.59del
NM_001278915.2:c.59del
NM_001278916.2:c.59del
NM_001278917.2:c.59del
NM_001278918.2:c.59del
NM_001278939.2:c.59del
NP_000492.2:p.Ile20fs
NP_001075221.1:p.Ile20fs
NP_001075222.1:p.Ile20fs
NP_001075223.1:p.Ile20fs
NP_001075224.1:p.Ile20fs
NP_001265841.1:p.Ile20fs
NP_001265842.1:p.Ile20fs
NP_001265843.1:p.Ile20fs
NP_001265844.1:p.Ile20fs
NP_001265845.1:p.Ile20fs
NP_001265846.1:p.Ile20fs
NP_001265847.1:p.Ile20fs
NP_001265868.1:p.Ile20fs
NC_000007.13:g.73442576del

Protein change:

I20fs

Molecular consequence:

NM_000501.4:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001081752.3:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001081753.3:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001081754.3:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001081755.3:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278912.2:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278913.2:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278914.2:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278915.2:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278916.2:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278917.2:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278918.2:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278939.2:c.59del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004023380	Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 2, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004023380

Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 2, 2023)

unknown

clinical testing

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

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	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV004023380.1

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

Description

The variant has not yet been described in the general population (gnomAD), in the literature or in the ClinVar database. In the case of stop or nonsense variants in a gene matching the phenotype, in which "loss of function" changes represent a known pathomechanism, a pathogenetic relevance can be assumed with high probability. Based on the current state of knowledge, the variant has been classified as a "pathogenic variant" (ACMG criteria).

#	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

Last Updated: Aug 13, 2023

ClinVar

Relating variation to medicine