NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 30, 2020
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:: RCV001582485.3

Allele description [Variation Report for NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)]

NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)

Gene:

ENO3:enolase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)

HGVS:

NC_000017.11:g.4955097G>A
NG_012063.2:g.14007G>A
NM_001193503.2:c.338G>A
NM_001976.5:c.467G>A
NM_053013.4:c.467G>AMANE SELECT
NP_001180432.1:p.Gly113Asp
NP_001967.3:p.Gly156Asp
NP_443739.3:p.Gly156Asp
NC_000017.10:g.4858392G>A
NM_001976.4:c.467G>A
NM_053013.3:c.467G>A
P13929:p.Gly156Asp

Protein change:

G113D; GLY156ASP

Links:

UniProtKB: P13929#VAR_020620; OMIM: 131370.0001; dbSNP: rs121918403

NCBI 1000 Genomes Browser:

rs121918403

Molecular consequence:

NM_001193503.2:c.338G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001976.5:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_053013.4:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001812489	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 30, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001812489

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 30, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001812489.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Published protein folding and stability studies of the corresponding missense variant in yeast suggests this variant reduces the stability of yeast enolase (Zhao et al., 2018); however, the clinical significance of this finding in humans remains to be determined.; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 18070103, 11506403)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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