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NM_181458.4(PAX3):c.755T>C (p.Leu252Pro) AND Waardenburg syndrome type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 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:
RCV001290148.1

Allele description [Variation Report for NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)]

NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)

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.755T>C (p.Leu252Pro)
HGVS:
  • NC_000002.12:g.222232115A>G
  • NG_011632.1:g.71867T>C
  • NM_001127366.3:c.752T>C
  • NM_181457.4:c.755T>C
  • NM_181458.4:c.755T>CMANE SELECT
  • NM_181459.4:c.755T>C
  • NM_181460.4:c.755T>C
  • NM_181461.4:c.755T>C
  • NP_001120838.1:p.Leu251Pro
  • NP_852122.1:p.Leu252Pro
  • NP_852123.1:p.Leu252Pro
  • NP_852124.1:p.Leu252Pro
  • NP_852125.1:p.Leu252Pro
  • NP_852126.1:p.Leu252Pro
  • NC_000002.11:g.223096834A>G
  • NM_001127366.2:c.752T>C
Protein change:
L251P
Links:
dbSNP: rs1692619812
NCBI 1000 Genomes Browser:
rs1692619812
Molecular consequence:
  • NM_001127366.3:c.752T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181457.4:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181458.4:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181459.4:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181460.4:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181461.4:c.755T>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001478201Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2019) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical 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 Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV001478201.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022