NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 10, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000255450.14

Allele description [Variation Report for NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)]

NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)

Genes:

LOC129997381:ATAC-STARR-seq lymphoblastoid silent region 17642 [Gene]
EPM2A-DT:EPM2A divergent transcript [Gene - HGNC]
EPM2A:EPM2A glucan phosphatase, laforin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.3

Genomic location:

Preferred name:

NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)

Other names:

p.Glu70Gln

HGVS:

NC_000006.12:g.145735291C>G
NG_012832.2:g.5565G>C
NM_001018041.2:c.208G>C
NM_001360057.2:c.208G>C
NM_001360064.2:c.-114+617G>C
NM_001360071.2:c.-462G>C
NM_001368129.2:c.-416G>C
NM_001368130.1:c.208G>C
NM_001368131.1:c.-160G>C
NM_005670.4:c.208G>CMANE SELECT
NP_001018051.1:p.Glu70Gln
NP_001346986.1:p.Glu70Gln
NP_001355059.1:p.Glu70Gln
NP_005661.1:p.Glu70Gln
NC_000006.11:g.146056427C>G
NG_012832.1:g.5565G>C
NM_005670.3:c.208G>C

Protein change:

E70Q

Links:

dbSNP: rs550455609

NCBI 1000 Genomes Browser:

rs550455609

Molecular consequence:

NM_001360071.2:c.-462G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001368129.2:c.-416G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001368131.1:c.-160G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001360064.2:c.-114+617G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001018041.2:c.208G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001360057.2:c.208G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001368130.1:c.208G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005670.4:c.208G>C - 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
SCV000321603	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 10, 2023)	germline	clinical testing	Citation Link,
SCV002542242	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 21, 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

SCV000321603

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 10, 2023)

germline

clinical testing

Citation Link,

SCV002542242

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 21, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000321603.7

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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

From Mayo Clinic Laboratories, Mayo Clinic, SCV002542242.1

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

#	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: Apr 20, 2024

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