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NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 2019
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:
RCV001751395.2

Allele description [Variation Report for NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro)]

NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro)

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.226G>C (p.Ala76Pro)
HGVS:
  • NC_000006.12:g.145735273C>G
  • NG_012832.2:g.5583G>C
  • NM_001018041.2:c.226G>C
  • NM_001360057.2:c.226G>C
  • NM_001360064.2:c.-114+635G>C
  • NM_001360071.2:c.-444G>C
  • NM_001368129.2:c.-398G>C
  • NM_001368130.1:c.226G>C
  • NM_001368131.1:c.-142G>C
  • NM_005670.4:c.226G>CMANE SELECT
  • NP_001018051.1:p.Ala76Pro
  • NP_001346986.1:p.Ala76Pro
  • NP_001355059.1:p.Ala76Pro
  • NP_005661.1:p.Ala76Pro
  • NC_000006.11:g.146056409C>G
  • NG_012832.1:g.5583G>C
  • NM_005670.3:c.226G>C
Protein change:
A76P
Links:
dbSNP: rs1333556119
NCBI 1000 Genomes Browser:
rs1333556119
Molecular consequence:
  • NM_001360071.2:c.-444G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368129.2:c.-398G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368131.1:c.-142G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001360064.2:c.-114+635G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018041.2:c.226G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001360057.2:c.226G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368130.1:c.226G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005670.4:c.226G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001985245GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 31, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001985245.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024