NM_020964.3(EPG5):c.3079A>G (p.Met1027Val) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 15, 2020
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:: RCV001570192.4

Allele description [Variation Report for NM_020964.3(EPG5):c.3079A>G (p.Met1027Val)]

NM_020964.3(EPG5):c.3079A>G (p.Met1027Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.1

Genomic location:

Preferred name:

NM_020964.3(EPG5):c.3079A>G (p.Met1027Val)

HGVS:

NC_000018.10:g.45922360T>C
NG_042838.1:g.49980A>G
NM_020964.3:c.3079A>GMANE SELECT
NP_066015.2:p.Met1027Val
LRG_1234t1:c.3079A>G
LRG_1234:g.49980A>G
LRG_1234p1:p.Met1027Val
NC_000018.9:g.43502326T>C
NM_020964.2:c.3079A>G

Protein change:

M1027V

Links:

dbSNP: rs200114829

NCBI 1000 Genomes Browser:

rs200114829

Molecular consequence:

NM_020964.3:c.3079A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001794432	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Feb 15, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001794432

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Feb 15, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001794432.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as likely benign but additional evidence is not available (SCV000763877.1; Landrum et al., 2016); Observed in 0.0324% (91/280904 alleles) in large population cohorts (Lek et al., 2016)

#	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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine