NM_000501.4(ELN):c.1537G>A (p.Val513Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 20, 2017
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:: RCV000478684.1

Allele description [Variation Report for NM_000501.4(ELN):c.1537G>A (p.Val513Ile)]

NM_000501.4(ELN):c.1537G>A (p.Val513Ile)

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.1537G>A (p.Val513Ile)

HGVS:

NC_000007.14:g.74060008G>A
NG_009261.1:g.36912G>A
NM_000501.4:c.1537G>AMANE SELECT
NM_001081752.3:c.1450G>A
NM_001081753.3:c.1495G>A
NM_001081754.3:c.1552G>A
NM_001081755.3:c.1480G>A
NM_001278912.2:c.1537G>A
NM_001278913.2:c.1294G>A
NM_001278914.2:c.1465G>A
NM_001278915.2:c.1555G>A
NM_001278916.2:c.1438G>A
NM_001278917.2:c.1507G>A
NM_001278918.2:c.1270G>A
NM_001278939.2:c.1624G>A
NP_000492.2:p.Val513Ile
NP_001075221.1:p.Val484Ile
NP_001075222.1:p.Val499Ile
NP_001075223.1:p.Val518Ile
NP_001075224.1:p.Val494Ile
NP_001265841.1:p.Val513Ile
NP_001265842.1:p.Val432Ile
NP_001265843.1:p.Val489Ile
NP_001265844.1:p.Val519Ile
NP_001265845.1:p.Val480Ile
NP_001265846.1:p.Val503Ile
NP_001265847.1:p.Val424Ile
NP_001265868.1:p.Val542Ile
NC_000007.13:g.73474338G>A
NM_000501.2:c.1537G>A
NM_000501.3:c.1537G>A

Protein change:

V424I

Links:

dbSNP: rs372788076

NCBI 1000 Genomes Browser:

rs372788076

Molecular consequence:

NM_000501.4:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001081752.3:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001081753.3:c.1495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001081754.3:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001081755.3:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278912.2:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278913.2:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278914.2:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278915.2:c.1555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278916.2:c.1438G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278917.2:c.1507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278918.2:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278939.2:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Rhinacanthus sp. voucher Allorge 2348 (P) ribosomal protein S16 (rps16) gene, in...
Rhinacanthus sp. voucher Allorge 2348 (P) ribosomal protein S16 (rps16) gene, intron; chloroplast
gi|2240036430|gb|MW451447.1|

Nucleotide
maturase K, partial (chloroplast) [Harpochilus neesianus]
maturase K, partial (chloroplast) [Harpochilus neesianus]
gi|1851772922|gb|QKN22167.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000573476	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 20, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000573476

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 20, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000573476.4

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

Description

The V513I variant of uncertain significance in the ELN gene has not been published as pathogenic or benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, V513I is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution also occurs at a position not conserved across species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. Lastly, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with ELN-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Sep 29, 2024

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