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NM_000399.5(EGR2):c.1022C>T (p.Pro341Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2018
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:
RCV000493025.1

Allele description [Variation Report for NM_000399.5(EGR2):c.1022C>T (p.Pro341Leu)]

NM_000399.5(EGR2):c.1022C>T (p.Pro341Leu)

Gene:
EGR2:early growth response 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_000399.5(EGR2):c.1022C>T (p.Pro341Leu)
HGVS:
  • NC_000010.11:g.62813616G>A
  • NG_008936.2:g.111285C>T
  • NM_000399.5:c.1022C>TMANE SELECT
  • NM_001136177.3:c.1022C>T
  • NM_001136178.2:c.1022C>T
  • NM_001136179.3:c.872C>T
  • NM_001321037.2:c.872C>T
  • NP_000390.2:p.Pro341Leu
  • NP_001129649.1:p.Pro341Leu
  • NP_001129650.1:p.Pro341Leu
  • NP_001129651.1:p.Pro291Leu
  • NP_001307966.1:p.Pro291Leu
  • LRG_239t1:c.1022C>T
  • LRG_239:g.111285C>T
  • NC_000010.10:g.64573376G>A
  • NM_000399.3:c.1022C>T
Protein change:
P291L
Links:
dbSNP: rs1131691827
NCBI 1000 Genomes Browser:
rs1131691827
Molecular consequence:
  • NM_000399.5:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136177.3:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136178.2:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136179.3:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321037.2:c.872C>T - 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
SCV000582939GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 7, 2018) 		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, SCV000582939.3

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

Description

The P341L variant in the EGR2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P341L variant is not observed in large population cohorts (Lek et al., 2016). The P341L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect, and this substitution occurs at a position within the zinc finger domain. We interpret P341L as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024