NM_020451.3(SELENON):c.125_136del (p.Ala42_Ala45del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 2024
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:: RCV004777295.1

Allele description [Variation Report for NM_020451.3(SELENON):c.125_136del (p.Ala42_Ala45del)]

NM_020451.3(SELENON):c.125_136del (p.Ala42_Ala45del)

Gene:

SELENON:selenoprotein N [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.11

Genomic location:

Preferred name:

NM_020451.3(SELENON):c.125_136del (p.Ala42_Ala45del)

HGVS:

NC_000001.11:g.25800355_25800366del
NG_009930.1:g.5180_5191del
NM_020451.3:c.125_136delMANE SELECT
NM_206926.2:c.125_136del
NP_065184.2:p.Ala42_Ala45del
NP_996809.1:p.Ala42_Ala45del
LRG_857t1:c.125_136del
LRG_857:g.5180_5191del
LRG_857p1:p.Ala42_Ala45del
NC_000001.10:g.26126846_26126857del
NM_020451.2:c.125_136del

Molecular consequence:

NM_020451.3:c.125_136del - inframe deletion - [Sequence Ontology: SO:0001822]
NM_206926.2:c.125_136del - inframe deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005391185	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005391185

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 1, 2024)

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, SCV005391185.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 4 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Nov 10, 2024

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Relating variation to medicine