NM_181458.4(PAX3):c.372_373del (p.Asn125fs) AND Waardenburg syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001822881.1

Allele description [Variation Report for NM_181458.4(PAX3):c.372_373del (p.Asn125fs)]

NM_181458.4(PAX3):c.372_373del (p.Asn125fs)

Gene:

PAX3:paired box 3 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2q36.1

Genomic location:

Preferred name:

NM_181458.4(PAX3):c.372_373del (p.Asn125fs)

HGVS:

NC_000002.12:g.222295607CT[2]
NG_011632.1:g.8371GA[2]
NG_021186.1:g.2461CT[2]
NM_000438.6:c.372_373del
NM_001127366.3:c.369_370del
NM_013942.5:c.372_373del
NM_181457.4:c.372_373del
NM_181458.4:c.372_373delMANE SELECT
NM_181459.4:c.372_373del
NM_181460.4:c.372_373del
NM_181461.4:c.372_373del
NP_000429.2:p.Asn125fs
NP_001120838.1:p.Asn124fs
NP_039230.1:p.Asn125fs
NP_852122.1:p.Asn125fs
NP_852123.1:p.Asn125fs
NP_852124.1:p.Asn125fs
NP_852125.1:p.Asn125fs
NP_852126.1:p.Asn125fs
NC_000002.11:g.223160326CT[2]

Protein change:

N124fs

Links:

dbSNP: rs2106200388

NCBI 1000 Genomes Browser:

rs2106200388

Molecular consequence:

NM_000438.6:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127366.3:c.369_370del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013942.5:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181457.4:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181458.4:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181459.4:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181460.4:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181461.4:c.372_373del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001762454	WangQJ Lab, Chinese People's Liberation Army General Hospital	no assertion criteria provided	Pathogenic (Jul 1, 2021)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001762454

WangQJ Lab, Chinese People's Liberation Army General Hospital

no assertion criteria provided

Pathogenic
(Jul 1, 2021)

de novo

clinical testing

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

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV001762454.1

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

#	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: Dec 24, 2023

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