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NM_000399.5(EGR2):c.442C>T (p.Pro148Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 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:
RCV002326956.2

Allele description [Variation Report for NM_000399.5(EGR2):c.442C>T (p.Pro148Ser)]

NM_000399.5(EGR2):c.442C>T (p.Pro148Ser)

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.442C>T (p.Pro148Ser)
HGVS:
  • NC_000010.11:g.62814196G>A
  • NG_008936.2:g.110705C>T
  • NM_000399.5:c.442C>TMANE SELECT
  • NM_001136177.3:c.442C>T
  • NM_001136178.2:c.442C>T
  • NM_001136179.3:c.292C>T
  • NM_001321037.2:c.292C>T
  • NP_000390.2:p.Pro148Ser
  • NP_001129649.1:p.Pro148Ser
  • NP_001129650.1:p.Pro148Ser
  • NP_001129651.1:p.Pro98Ser
  • NP_001307966.1:p.Pro98Ser
  • LRG_239t1:c.442C>T
  • LRG_239:g.110705C>T
  • NC_000010.10:g.64573956G>A
  • NM_000399.3:c.442C>T
Protein change:
P148S
Links:
dbSNP: rs147604283
NCBI 1000 Genomes Browser:
rs147604283
Molecular consequence:
  • NM_000399.5:c.442C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136177.3:c.442C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136178.2:c.442C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136179.3:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321037.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002629231Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 20, 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, SCV002629231.2

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

Description

The p.P148S variant (also known as c.442C>T), located in coding exon 2 of the EGR2 gene, results from a C to T substitution at nucleotide position 442. The proline at codon 148 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of autosomal dominant Charcot-Marie-Tooth disease, type 1D (CMT1D) and Dejerine-Sottas disease (DSS), however, its contribution to the development of the autosomal recessive spectrum of diseases is uncertain.

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

Last Updated: Sep 29, 2024