NM_017957.3(EPN3):c.421C>T (p.Arg141Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 23, 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:
RCV004137598.1

Allele description [Variation Report for NM_017957.3(EPN3):c.421C>T (p.Arg141Trp)]

NM_017957.3(EPN3):c.421C>T (p.Arg141Trp)

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.421C>T (p.Arg141Trp)
HGVS:
  • NC_000017.11:g.50536977C>T
  • NM_017957.3:c.421C>TMANE SELECT
  • NP_060427.2:p.Arg141Trp
  • NC_000017.10:g.48614338C>T
  • NM_017957.2:c.421C>T
Protein change:
R141W
Molecular consequence:
  • NM_017957.3:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003611514Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 23, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003611514.2

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

Description

The c.421C>T (p.R141W) alteration is located in exon 2 (coding exon 1) of the EPN3 gene. This alteration results from a C to T substitution at nucleotide position 421, causing the arginine (R) at amino acid position 141 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024