U.S. flag

An official website of the United States government

NM_000501.4(ELN):c.1543G>A (p.Val515Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 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:
RCV001586118.3

Allele description [Variation Report for NM_000501.4(ELN):c.1543G>A (p.Val515Met)]

NM_000501.4(ELN):c.1543G>A (p.Val515Met)

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.1543G>A (p.Val515Met)
HGVS:
  • NC_000007.14:g.74060014G>A
  • NG_009261.1:g.36918G>A
  • NM_000501.4:c.1543G>AMANE SELECT
  • NM_001081752.3:c.1456G>A
  • NM_001081753.3:c.1501G>A
  • NM_001081754.3:c.1558G>A
  • NM_001081755.3:c.1486G>A
  • NM_001278912.2:c.1543G>A
  • NM_001278913.2:c.1300G>A
  • NM_001278914.2:c.1471G>A
  • NM_001278915.2:c.1561G>A
  • NM_001278916.2:c.1444G>A
  • NM_001278917.2:c.1513G>A
  • NM_001278918.2:c.1276G>A
  • NM_001278939.2:c.1630G>A
  • NP_000492.2:p.Val515Met
  • NP_001075221.1:p.Val486Met
  • NP_001075222.1:p.Val501Met
  • NP_001075223.1:p.Val520Met
  • NP_001075224.1:p.Val496Met
  • NP_001265841.1:p.Val515Met
  • NP_001265842.1:p.Val434Met
  • NP_001265843.1:p.Val491Met
  • NP_001265844.1:p.Val521Met
  • NP_001265845.1:p.Val482Met
  • NP_001265846.1:p.Val505Met
  • NP_001265847.1:p.Val426Met
  • NP_001265868.1:p.Val544Met
  • NC_000007.13:g.73474344G>A
  • NM_000501.2:c.1543G>A
  • NM_001278939.1:c.1630G>A
Protein change:
V426M
Links:
dbSNP: rs376258672
NCBI 1000 Genomes Browser:
rs376258672
Molecular consequence:
  • NM_000501.4:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081752.3:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081753.3:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081754.3:c.1558G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081755.3:c.1486G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278912.2:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278913.2:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278914.2:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278915.2:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278916.2:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278917.2:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278918.2:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278939.2:c.1630G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001812198GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 28, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001812198.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 1008316; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 27535533)

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

Last Updated: Sep 29, 2024