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NM_080732.4(EGLN2):c.132G>C (p.Leu44=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 29, 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:
RCV004058425.1

Allele description [Variation Report for NM_080732.4(EGLN2):c.132G>C (p.Leu44=)]

NM_080732.4(EGLN2):c.132G>C (p.Leu44=)

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.132G>C (p.Leu44=)
HGVS:
  • NC_000019.10:g.40800704G>C
  • NM_053046.4:c.132G>C
  • NM_080732.4:c.132G>CMANE SELECT
  • NP_444274.1:p.Leu44=
  • NP_542770.2:p.Leu44=
  • NC_000019.9:g.41306609G>C
  • NM_080732.3:c.132G>C
  • NR_037791.1:n.1180G>C
Molecular consequence:
  • NR_037791.1:n.1180G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_053046.4:c.132G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_080732.4:c.132G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002693053Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 29, 2021) 		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, SCV002693053.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024