NM_181458.4(PAX3):c.233T>A (p.Val78Glu) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 9, 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:: RCV001558191.2

Allele description [Variation Report for NM_181458.4(PAX3):c.233T>A (p.Val78Glu)]

NM_181458.4(PAX3):c.233T>A (p.Val78Glu)

Gene:

PAX3:paired box 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.1

Genomic location:

Preferred name:

NM_181458.4(PAX3):c.233T>A (p.Val78Glu)

HGVS:

NC_000002.12:g.222297066A>T
NG_011632.1:g.6916T>A
NG_021186.1:g.3920A>T
NM_000438.6:c.233T>A
NM_001127366.3:c.233T>A
NM_013942.5:c.233T>A
NM_181457.4:c.233T>A
NM_181458.4:c.233T>AMANE SELECT
NM_181459.4:c.233T>A
NM_181460.4:c.233T>A
NM_181461.4:c.233T>A
NP_000429.2:p.Val78Glu
NP_001120838.1:p.Val78Glu
NP_039230.1:p.Val78Glu
NP_852122.1:p.Val78Glu
NP_852123.1:p.Val78Glu
NP_852124.1:p.Val78Glu
NP_852125.1:p.Val78Glu
NP_852126.1:p.Val78Glu
NC_000002.11:g.223161785A>T
NM_181457.3:c.233T>A

Protein change:

V78E

Links:

dbSNP: rs2106203794

NCBI 1000 Genomes Browser:

rs2106203794

Molecular consequence:

NM_000438.6:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127366.3:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_013942.5:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181457.4:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181458.4:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181459.4:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181460.4:c.233T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181461.4:c.233T>A - 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
SCV001780089	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Apr 9, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001780089

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Apr 9, 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, SCV001780089.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17323927)

#	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: Dec 24, 2023

ClinVar

Relating variation to medicine