NM_181458.4(PAX3):c.936C>G (p.Tyr312Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 28, 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:: RCV003711152.1

Allele description [Variation Report for NM_181458.4(PAX3):c.936C>G (p.Tyr312Ter)]

NM_181458.4(PAX3):c.936C>G (p.Tyr312Ter)

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.936C>G (p.Tyr312Ter)

HGVS:

NC_000002.12:g.222221244G>C
NG_011632.1:g.82738C>G
NG_082849.1:g.1329G>C
NM_001127366.3:c.933C>G
NM_181457.4:c.936C>G
NM_181458.4:c.936C>GMANE SELECT
NM_181459.4:c.936C>G
NM_181460.4:c.936C>G
NM_181461.4:c.936C>G
NP_001120838.1:p.Tyr311Ter
NP_852122.1:p.Tyr312Ter
NP_852123.1:p.Tyr312Ter
NP_852124.1:p.Tyr312Ter
NP_852125.1:p.Tyr312Ter
NP_852126.1:p.Tyr312Ter
NC_000002.11:g.223085963G>C

Protein change:

Y311*

Molecular consequence:

NM_001127366.3:c.933C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_181457.4:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_181458.4:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_181459.4:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_181460.4:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_181461.4:c.936C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004490135	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 28, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20127975, 23512835, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004490135

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 28, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Review and update of mutations causing Waardenburg syndrome.

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N.

Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Review.

PubMed [citation]

PMID:: 20127975

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D.

BMJ Open. 2013 Mar 18;3(3). doi:pii: e001917. 10.1136/bmjopen-2012-001917.

PubMed [citation]

PMID:: 23512835
PMCID:: PMC3612789

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004490135.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Waardenburg syndrome (PMID: 20127975). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr312*) in the PAX3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAX3 are known to be pathogenic (PMID: 20127975, 23512835).

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

Last Updated: Feb 28, 2024

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