NM_181458.4(PAX3):c.238C>T (p.His80Tyr) AND Waardenburg syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 12, 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:: RCV003493976.1

Allele description [Variation Report for NM_181458.4(PAX3):c.238C>T (p.His80Tyr)]

NM_181458.4(PAX3):c.238C>T (p.His80Tyr)

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.238C>T (p.His80Tyr)

HGVS:

NC_000002.12:g.222297061G>A
NG_011632.1:g.6921C>T
NG_021186.1:g.3915G>A
NM_000438.6:c.238C>T
NM_001127366.3:c.238C>T
NM_013942.5:c.238C>T
NM_181457.4:c.238C>T
NM_181458.4:c.238C>TMANE SELECT
NM_181459.4:c.238C>T
NM_181460.4:c.238C>T
NM_181461.4:c.238C>T
NP_000429.2:p.His80Tyr
NP_001120838.1:p.His80Tyr
NP_039230.1:p.His80Tyr
NP_852122.1:p.His80Tyr
NP_852123.1:p.His80Tyr
NP_852124.1:p.His80Tyr
NP_852125.1:p.His80Tyr
NP_852126.1:p.His80Tyr
NC_000002.11:g.223161780G>A
NM_181457.3:c.238C>T

Protein change:

H80Y

Molecular consequence:

NM_000438.6:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127366.3:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013942.5:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181457.4:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181458.4:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181459.4:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181460.4:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181461.4:c.238C>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
SCV004242466	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 12, 2024)	de novo	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

SCV004242466

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 12, 2024)

de novo

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	de novo	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV004242466.1

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

Description

Criteria applied: PM5_STR,PS2_MOD,PM1,PM2_SUP,PP3

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

Last Updated: Feb 14, 2024

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