NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 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:: RCV002575393.2

Allele description [Variation Report for NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del)]

NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del)

Gene:

EPG5:ectopic P-granules 5 autophagy tethering factor [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

18q21.1

Genomic location:

Preferred name:

NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del)

HGVS:

NC_000018.10:g.45955327CTT[2]
NG_042838.1:g.17005AAG[2]
NM_001410858.1:c.67_69AAG[2]
NM_001410859.1:c.67_69AAG[2]
NM_020964.3:c.67AAG[2]MANE SELECT
NP_001397787.1:p.Lys25del
NP_001397788.1:p.Lys25del
NP_066015.2:p.Lys25del
LRG_1234t1:c.67AAG[2]
LRG_1234:g.17005AAG[2]
LRG_1234p1:p.Lys25del
NC_000018.9:g.43535293CTT[2]
NC_000018.9:g.43535293_43535295del
NM_020964.2:c.73_75delAAG

Protein change:

K25del

Molecular consequence:

NM_020964.3:c.67AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001410858.1:c.67_69AAG[2] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001410859.1:c.67_69AAG[2] - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003759644	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 24, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003759644

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 24, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003759644.2

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

Description

The c.73_75delAAG (p.K25del) alteration is located in exon 2 (coding exon 2) of the EPG5 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.73 and c.75, resulting in the deletion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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