NM_053013.4(ENO3):c.298A>T (p.Thr100Ser) AND Glycogen storage disease due to muscle beta-enolase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 24, 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:: RCV003060938.1

Allele description [Variation Report for NM_053013.4(ENO3):c.298A>T (p.Thr100Ser)]

NM_053013.4(ENO3):c.298A>T (p.Thr100Ser)

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.298A>T (p.Thr100Ser)

HGVS:

NC_000017.11:g.4953329A>T
NG_012063.2:g.12239A>T
NG_032945.1:g.758T>A
NM_001193503.2:c.182-383A>T
NM_001374523.1:c.298A>T
NM_001374524.1:c.325A>T
NM_001976.5:c.298A>T
NM_053013.4:c.298A>TMANE SELECT
NP_001361452.1:p.Thr100Ser
NP_001361453.1:p.Thr109Ser
NP_001967.3:p.Thr100Ser
NP_443739.3:p.Thr100Ser
NC_000017.10:g.4856624A>T

Protein change:

T100S

Molecular consequence:

NM_001193503.2:c.182-383A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001374523.1:c.298A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374524.1:c.325A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001976.5:c.298A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_053013.4:c.298A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glycogen storage disease due to muscle beta-enolase deficiency (GSD13)
Synonyms:: GSD XIII; Glycogen storage disease type 13; Enolase-beta deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013046; MedGen: C2752027; Orphanet: 99849; OMIM: 612932

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003456160	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 24, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003456160

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 24, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003456160.1

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

Description

This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 100 of the ENO3 protein (p.Thr100Ser). This variant is present in population databases (rs764391024, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ENO3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 13, 2023

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