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NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 8, 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:
RCV001770968.2

Allele description [Variation Report for NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro)]

NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro)

Genes:
LOC126806529:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:223084735-223085934 [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.1036T>C (p.Ser346Pro)
HGVS:
  • NC_000002.12:g.222220277A>G
  • NG_011632.1:g.83705T>C
  • NM_001127366.3:c.1033T>C
  • NM_181457.4:c.1036T>C
  • NM_181458.4:c.1036T>CMANE SELECT
  • NM_181459.4:c.1036T>C
  • NM_181460.4:c.1036T>C
  • NM_181461.4:c.1036T>C
  • NP_001120838.1:p.Ser345Pro
  • NP_852122.1:p.Ser346Pro
  • NP_852123.1:p.Ser346Pro
  • NP_852124.1:p.Ser346Pro
  • NP_852125.1:p.Ser346Pro
  • NP_852126.1:p.Ser346Pro
  • NC_000002.11:g.223084996A>G
  • NM_181457.3:c.1036T>C
Protein change:
S345P
Links:
dbSNP: rs778178524
NCBI 1000 Genomes Browser:
rs778178524
Molecular consequence:
  • NM_001127366.3:c.1033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181457.4:c.1036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181458.4:c.1036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181459.4:c.1036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181460.4:c.1036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181461.4:c.1036T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001993938GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 8, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001993938.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified in a fetus with myelomeningocele associated with Arnold Chiari malformation in the published literature (Beaumont et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30838450)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023