NM_017957.3(EPN3):c.20G>A (p.Arg7Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 2023
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:: RCV004378123.1

Allele description [Variation Report for NM_017957.3(EPN3):c.20G>A (p.Arg7Gln)]

NM_017957.3(EPN3):c.20G>A (p.Arg7Gln)

Gene:

EPN3:epsin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

Preferred name:

NM_017957.3(EPN3):c.20G>A (p.Arg7Gln)

HGVS:

NC_000017.11:g.50536576G>A
NM_017957.3:c.20G>AMANE SELECT
NP_060427.2:p.Arg7Gln
NC_000017.10:g.48613937G>A
NM_017957.2:c.20G>A

Protein change:

R7Q

Molecular consequence:

NM_017957.3:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Medicago sativa subsp. x varia bio-material USDA:PI 641578 rpl20-rps12 intergeni...
Medicago sativa subsp. x varia bio-material USDA:PI 641578 rpl20-rps12 intergenic spacer, partial sequence; chloroplast
gi|343887124|gb|HQ198986.1|

Nucleotide
Medicago sativa subsp. x varia bio-material USDA:PI 641594 rpl20-rps12 intergeni...
Medicago sativa subsp. x varia bio-material USDA:PI 641594 rpl20-rps12 intergenic spacer, partial sequence; chloroplast
gi|343887125|gb|HQ198987.1|

Nucleotide
Avitaminosis
Avitaminosis
A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)<br/>

MeSH

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
SCV004865220	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004865220

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 26, 2023)

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, SCV004865220.1

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

Description

The c.20G>A (p.R7Q) alteration is located in exon 2 (coding exon 1) of the EPN3 gene. This alteration results from a G to A substitution at nucleotide position 20, causing the arginine (R) at amino acid position 7 to be replaced by a glutamine (Q). 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: May 7, 2024

ClinVar

Relating variation to medicine