NM_053013.4(ENO3):c.692_707dup (p.Asp238fs) AND Glycogen storage disease due to muscle beta-enolase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 24, 2022
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:: RCV001952967.3

Allele description [Variation Report for NM_053013.4(ENO3):c.692_707dup (p.Asp238fs)]

NM_053013.4(ENO3):c.692_707dup (p.Asp238fs)

Gene:

ENO3:enolase 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_053013.4(ENO3):c.692_707dup (p.Asp238fs)

HGVS:

NC_000017.11:g.4955431_4955446dup
NG_012063.2:g.14341_14356dup
NM_001193503.2:c.563_578dup
NM_001374523.1:c.692_707dup
NM_001374524.1:c.719_734dup
NM_001976.5:c.692_707dup
NM_053013.4:c.692_707dupMANE SELECT
NP_001180432.1:p.Asp195fs
NP_001361452.1:p.Asp238fs
NP_001361453.1:p.Asp247fs
NP_001967.3:p.Asp238fs
NP_443739.3:p.Asp238fs
NC_000017.10:g.4858724_4858725insATCCAGGCGGCTGGTT
NC_000017.10:g.4858726_4858741dup

Protein change:

D195fs

Links:

dbSNP: rs757486701

NCBI 1000 Genomes Browser:

rs757486701

Molecular consequence:

NM_001193503.2:c.563_578dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374523.1:c.692_707dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374524.1:c.719_734dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001976.5:c.692_707dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_053013.4:c.692_707dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002223754	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 24, 2022)	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

SCV002223754

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 24, 2022)

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002223754.2

#	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 creates a premature translational stop signal (p.Asp238Glyfs*18) in the ENO3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ENO3 cause disease. This variant is present in population databases (rs757486701, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ENO3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1442371). 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: Sep 29, 2024

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