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NM_080732.4(EGLN2):c.89G>A (p.Gly30Asp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2022
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:
RCV004247567.1

Allele description [Variation Report for NM_080732.4(EGLN2):c.89G>A (p.Gly30Asp)]

NM_080732.4(EGLN2):c.89G>A (p.Gly30Asp)

Genes:
RAB4B-EGLN2:RAB4B-EGLN2 readthrough (NMD candidate) [Gene - HGNC]
EGLN2:egl-9 family hypoxia inducible factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_080732.4(EGLN2):c.89G>A (p.Gly30Asp)
HGVS:
  • NC_000019.10:g.40800661G>A
  • NM_053046.4:c.89G>A
  • NM_080732.4:c.89G>AMANE SELECT
  • NP_444274.1:p.Gly30Asp
  • NP_542770.2:p.Gly30Asp
  • NC_000019.9:g.41306566G>A
  • NM_080732.3:c.89G>A
  • NR_037791.1:n.1137G>A
Protein change:
G30D
Molecular consequence:
  • NM_053046.4:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080732.4:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037791.1:n.1137G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003856933Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003856933.2

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

Description

The p.G30D variant (also known as c.89G>A), located in coding exon 1 of the EGLN2 gene, results from a G to A substitution at nucleotide position 89. The glycine at codon 30 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024