NM_015466.4(PTPN23):c.1798-14dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 26, 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:: RCV003857265.2

Allele description [Variation Report for NM_015466.4(PTPN23):c.1798-14dup]

NM_015466.4(PTPN23):c.1798-14dup

Gene:

PTPN23:protein tyrosine phosphatase non-receptor type 23 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_015466.4(PTPN23):c.1798-14dup

HGVS:

NC_000003.12:g.47409403dup
NG_051056.1:g.33422dup
NM_001304482.2:c.1420-14dup
NM_015466.4:c.1798-14dupMANE SELECT
NC_000003.11:g.47450888_47450889insC
NC_000003.11:g.47450893dup

Molecular consequence:

NM_001304482.2:c.1420-14dup - intron variant - [Sequence Ontology: SO:0001627]
NM_015466.4:c.1798-14dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Caenorhabditis elegans mRNA for hnRNP like protein, complete cds
Caenorhabditis elegans mRNA for hnRNP like protein, complete cds
gi|217299|dbj|D10877.1|CELRBP1

Nucleotide
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|194389528|dbj|BAG61725.1|

Protein
Rattus norvegicus COP9 constitutive photomorphogenic homolog subunit 3 (Arabidop...
Rattus norvegicus COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis), mRNA (cDNA clone MGC:94156 IMAGE:7128107), complete cds
gi|51260716|gb|BC079143.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004662175	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jun 26, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004662175

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jun 26, 2023)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004662175.1

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

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine