NM_181458.4(PAX3):c.239A>G (p.His80Arg) AND Waardenburg syndrome type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000987040.1

Allele description [Variation Report for NM_181458.4(PAX3):c.239A>G (p.His80Arg)]

NM_181458.4(PAX3):c.239A>G (p.His80Arg)

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.239A>G (p.His80Arg)

HGVS:

NC_000002.12:g.222297060T>C
NG_011632.1:g.6922A>G
NG_021186.1:g.3914T>C
NM_000438.6:c.239A>G
NM_001127366.3:c.239A>G
NM_013942.5:c.239A>G
NM_181457.4:c.239A>G
NM_181458.4:c.239A>GMANE SELECT
NM_181459.4:c.239A>G
NM_181460.4:c.239A>G
NM_181461.4:c.239A>G
NP_000429.2:p.His80Arg
NP_001120838.1:p.His80Arg
NP_039230.1:p.His80Arg
NP_852122.1:p.His80Arg
NP_852123.1:p.His80Arg
NP_852124.1:p.His80Arg
NP_852125.1:p.His80Arg
NP_852126.1:p.His80Arg
NC_000002.11:g.223161779T>C

Protein change:

H80R

Links:

dbSNP: rs1574771535

NCBI 1000 Genomes Browser:

rs1574771535

Molecular consequence:

NM_000438.6:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127366.3:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_013942.5:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181457.4:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181458.4:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181459.4:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181460.4:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181461.4:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Waardenburg syndrome type 1 (WS1)
Synonyms:: WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM; Waardenburg's syndrome type 1
Identifiers:: MONDO: MONDO:0008670; MedGen: C1847800; OMIM: 193500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001136228	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001136228

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001136228.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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