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NM_000501.3(ELN):c.92G>A (p.Gly31Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2015
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:
RCV000200516.1

Allele description

NM_000501.3(ELN):c.92G>A (p.Gly31Glu)

Gene:
ELN:elastin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
NM_000501.3(ELN):c.92G>A (p.Gly31Glu)
Other names:
p.G31E:GGG>GAG
HGVS:
  • NC_000007.14:g.74035373G>A
  • NG_009261.1:g.12277G>A
  • NM_000501.3:c.92G>A
  • NP_000492.2:p.Gly31Glu
  • NC_000007.13:g.73449703G>A
  • NM_000501.2:c.92G>A
Protein change:
G31E
Links:
dbSNP: rs782625771
NCBI 1000 Genomes Browser:
rs782625771
Allele Frequency:
0.00002(A)
Molecular consequence:
  • NM_000501.3:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000250064GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 20, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000250064.3

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

Description

The G31E variant in the ELN gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G31E variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G31E variant is a non-conservative amino acid substitution, as these residues differ in polarity, charge, size and/or other properties, which occurs at a position that is well-conserved across mammalian species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G31E as a variant of unknown significance. This variant was found in ELN

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

Last Updated: Feb 22, 2017