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NM_015466.4(PTPN23):c.33G>C (p.Trp11Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 25, 2023
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:
RCV004760018.1

Allele description [Variation Report for NM_015466.4(PTPN23):c.33G>C (p.Trp11Cys)]

NM_015466.4(PTPN23):c.33G>C (p.Trp11Cys)

Gene:
PTPN23:protein tyrosine phosphatase non-receptor type 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_015466.4(PTPN23):c.33G>C (p.Trp11Cys)
HGVS:
  • NC_000003.12:g.47381129G>C
  • NG_051056.1:g.5148G>C
  • NG_099309.1:g.823G>C
  • NG_099310.1:g.145G>C
  • NM_001304482.2:c.-218G>C
  • NM_015466.4:c.33G>CMANE SELECT
  • NP_056281.1:p.Trp11Cys
  • NC_000003.11:g.47422619G>C
  • NM_015466.2:c.33G>C
  • NR_185912.1:n.364C>G
Protein change:
W11C
Molecular consequence:
  • NM_001304482.2:c.-218G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_015466.4:c.33G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_185912.1:n.364C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005372992GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 25, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV005372992.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 20, 2024