NM_181458.4(PAX3):c.218C>T (p.Ser73Leu) AND Waardenburg syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2016
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:: RCV000660201.1

Allele description [Variation Report for NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)]

NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)

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.218C>T (p.Ser73Leu)

HGVS:

NC_000002.12:g.222297081G>A
NG_011632.1:g.6901C>T
NG_021186.1:g.3935G>A
NM_000438.6:c.218C>T
NM_001127366.3:c.218C>T
NM_013942.5:c.218C>T
NM_181457.4:c.218C>T
NM_181458.4:c.218C>TMANE SELECT
NM_181459.4:c.218C>T
NM_181460.4:c.218C>T
NM_181461.4:c.218C>T
NP_000429.2:p.Ser73Leu
NP_001120838.1:p.Ser73Leu
NP_039230.1:p.Ser73Leu
NP_852122.1:p.Ser73Leu
NP_852123.1:p.Ser73Leu
NP_852124.1:p.Ser73Leu
NP_852125.1:p.Ser73Leu
NP_852126.1:p.Ser73Leu
NC_000002.11:g.223161800G>A
NM_181457.3:c.218C>T

Protein change:

S73L

Links:

dbSNP: rs1553593928

NCBI 1000 Genomes Browser:

rs1553593928

Molecular consequence:

NM_000438.6:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127366.3:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013942.5:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181457.4:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181458.4:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181459.4:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181460.4:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181461.4:c.218C>T - 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
SCV000782201	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

SCV000782201

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

Citations

PubMed

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 Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000782201.1

#	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: Apr 23, 2022

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