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NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 27, 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:
RCV003107902.3

Allele description [Variation Report for NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)]

NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)

Gene:
ELN:elastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)
HGVS:
  • NC_000007.14:g.74054769G>A
  • NG_009261.1:g.31673G>A
  • NM_000501.2:c.1150G>A
  • NM_000501.4:c.1150G>AMANE SELECT
  • NM_001081752.3:c.1120G>A
  • NM_001081753.3:c.1165G>A
  • NM_001081754.3:c.1165G>A
  • NM_001081755.3:c.1150G>A
  • NM_001278912.2:c.1150G>A
  • NM_001278913.2:c.1042G>A
  • NM_001278914.2:c.1135G>A
  • NM_001278915.2:c.1150G>A
  • NM_001278916.2:c.1108G>A
  • NM_001278917.2:c.1120G>A
  • NM_001278918.2:c.1018G>A
  • NM_001278939.2:c.1150G>A
  • NP_000492.2:p.Gly384Arg
  • NP_001075221.1:p.Gly374Arg
  • NP_001075222.1:p.Gly389Arg
  • NP_001075223.1:p.Gly389Arg
  • NP_001075224.1:p.Gly384Arg
  • NP_001265841.1:p.Gly384Arg
  • NP_001265842.1:p.Gly348Arg
  • NP_001265843.1:p.Gly379Arg
  • NP_001265844.1:p.Gly384Arg
  • NP_001265845.1:p.Gly370Arg
  • NP_001265846.1:p.Gly374Arg
  • NP_001265847.1:p.Gly340Arg
  • NP_001265868.1:p.Gly384Arg
  • NC_000007.13:g.73469099G>A
  • NM_001278939.1:c.1150G>A
Protein change:
G340R
Links:
dbSNP: rs782359367
NCBI 1000 Genomes Browser:
rs782359367
Molecular consequence:
  • NM_000501.4:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081752.3:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081753.3:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081754.3:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081755.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278912.2:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278913.2:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278914.2:c.1135G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278915.2:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278916.2:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278917.2:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278918.2:c.1018G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278939.2:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003761782GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 27, 2023) 		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, SCV003761782.2

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

Description

Has been reported as a variant of uncertain significance in an individual with aortic aneurysm, pectus excavatum, malar hypoplasia, and retrognathia (Overwater et al., 2018); of note the patients father and brother also had an aortic aneurysm, but molecular confirmation was not performed on these individuals.; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29907982)

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

Last Updated: Sep 29, 2024