NM_000501.4(ELN):c.1622-14C>T AND Supravalvar aortic stenosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 27, 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:: RCV001858431.3

Allele description [Variation Report for NM_000501.4(ELN):c.1622-14C>T]

NM_000501.4(ELN):c.1622-14C>T

Genes:

ELN-AS1:ELN antisense RNA 1 [Gene - HGNC]
ELN:elastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.23

Genomic location:

Preferred name:

NM_000501.4(ELN):c.1622-14C>T

HGVS:

NC_000007.14:g.74060362C>T
NG_009261.1:g.37266C>T
NM_000501.4:c.1622-14C>TMANE SELECT
NM_001081752.3:c.1535-14C>T
NM_001081753.3:c.1580-14C>T
NM_001081754.3:c.1637-14C>T
NM_001081755.3:c.1565-14C>T
NM_001278912.2:c.1622-14C>T
NM_001278913.2:c.1379-14C>T
NM_001278914.2:c.1550-14C>T
NM_001278915.2:c.1640-14C>T
NM_001278916.2:c.1478-14C>T
NM_001278917.2:c.1592-14C>T
NM_001278918.2:c.1355-14C>T
NM_001278939.2:c.1709-14C>T
NC_000007.13:g.73474692C>T
NC_000007.13:g.73474692C>T
NM_000501.2:c.1622-14C>T

Links:

dbSNP: rs782637446

NCBI 1000 Genomes Browser:

rs782637446

Molecular consequence:

NM_000501.4:c.1622-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001081752.3:c.1535-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001081753.3:c.1580-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001081754.3:c.1637-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001081755.3:c.1565-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001278912.2:c.1622-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001278913.2:c.1379-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001278914.2:c.1550-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001278915.2:c.1640-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001278916.2:c.1478-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001278917.2:c.1592-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001278918.2:c.1355-14C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001278939.2:c.1709-14C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002318208	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 27, 2021)	germline	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

SCV002318208

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 27, 2021)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002318208.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 679060). This variant has not been reported in the literature in individuals affected with ELN-related conditions. This variant is present in population databases (rs782637446, gnomAD 0.003%). This sequence change falls in intron 25 of the ELN gene. It does not directly change the encoded amino acid sequence of the ELN protein.

#	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: Feb 14, 2024

ClinVar

Relating variation to medicine