NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) AND Waardenburg syndrome type 1

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 1, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000626396.1

Allele description [Variation Report for NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)]

NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)

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.142G>C (p.Gly48Arg)

HGVS:

NC_000002.12:g.222297157C>G
NG_011632.1:g.6825G>C
NG_021186.1:g.4011C>G
NM_000438.6:c.142G>C
NM_001127366.3:c.142G>C
NM_013942.5:c.142G>C
NM_181457.4:c.142G>C
NM_181458.4:c.142G>CMANE SELECT
NM_181459.4:c.142G>C
NM_181460.4:c.142G>C
NM_181461.4:c.142G>C
NP_000429.2:p.Gly48Arg
NP_001120838.1:p.Gly48Arg
NP_039230.1:p.Gly48Arg
NP_852122.1:p.Gly48Arg
NP_852123.1:p.Gly48Arg
NP_852124.1:p.Gly48Arg
NP_852125.1:p.Gly48Arg
NP_852126.1:p.Gly48Arg
NC_000002.11:g.223161876C>G
NM_181457.3:c.142G>C
NM_181459.3:c.142G>C

Protein change:

G48R

Links:

dbSNP: rs1419548558

NCBI 1000 Genomes Browser:

rs1419548558

Molecular consequence:

NM_000438.6:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127366.3:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_013942.5:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181457.4:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181458.4:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181459.4:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181460.4:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181461.4:c.142G>C - 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
SCV000678731	Laboratory of Human Genetics, Universidade de São Paulo	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2017)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 29407415
SCV000782199	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000678731

Laboratory of Human Genetics, Universidade de São Paulo

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2017)

unknown

research

PubMed (2)
[See all records that cite these PMIDs]

SCV000782199

Center for Human Genetics, Inc, Center for Human Genetics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 1, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC.

Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31.

PubMed [citation]

PMID:: 29407415

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Human Genetics, Universidade de São Paulo, SCV000678731.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

From Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000782199.1

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

#	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: Feb 20, 2024

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