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NM_181458.4(PAX3):c.812G>A (p.Arg271His) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 19, 2022
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:
RCV002500967.1

Allele description [Variation Report for NM_181458.4(PAX3):c.812G>A (p.Arg271His)]

NM_181458.4(PAX3):c.812G>A (p.Arg271His)

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.812G>A (p.Arg271His)
Other names:
NM_181458.3:c.812G>A, p.(Arg271His)
HGVS:
  • NC_000002.12:g.222221368C>T
  • NG_011632.1:g.82614G>A
  • NM_001127366.3:c.809G>A
  • NM_181457.4:c.812G>A
  • NM_181458.4:c.812G>AMANE SELECT
  • NM_181459.4:c.812G>A
  • NM_181460.4:c.812G>A
  • NM_181461.4:c.812G>A
  • NP_001120838.1:p.Arg270His
  • NP_852122.1:p.Arg271His
  • NP_852123.1:p.Arg271His
  • NP_852124.1:p.Arg271His
  • NP_852125.1:p.Arg271His
  • NP_852126.1:p.Arg271His
  • NC_000002.11:g.223086087C>T
  • NM_001127366.2:c.809G>A
  • NM_181457.3:c.812G>A
  • P23760:p.Arg271His
Protein change:
R270H
Links:
UniProtKB: P23760#VAR_017538; dbSNP: rs774528745
NCBI 1000 Genomes Browser:
rs774528745
Molecular consequence:
  • NM_001127366.3:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181457.4:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181458.4:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181459.4:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181460.4:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181461.4:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alveolar rhabdomyosarcoma (RMS2)
Synonyms:
RHABDOMYOSARCOMA 2; Alveolar rhabdomyosarcoma (disease)
Identifiers:
MONDO: MONDO:0009994; MedGen: C0206655; Orphanet: 780; OMIM: 268220; Human Phenotype Ontology: HP:0006779
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
Name:
Craniofacial-deafness-hand syndrome (CDHS)
Synonyms:
Features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss
Identifiers:
MONDO: MONDO:0007395; MedGen: C1852510; Orphanet: 1529; OMIM: 122880
Name:
Waardenburg syndrome type 3 (WS3)
Synonyms:
Klein-Waardenburg syndrome; Waardenburg syndrome with upper limb anomalies; White forelock (poliosis) syndrome with multiple congenital malformations; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007862; MedGen: C0079661; Orphanet: 3440; OMIM: 148820

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002813970Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 19, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002813970.1

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

Last Updated: Feb 20, 2024