NM_001127208.3(TET2):c.2216_2264dup (p.Glu755delinsAspSerLysProAlaThrAlaAlaLysIleThrAsnLysGluTer) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 2020
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:: RCV001755517.2

Allele description [Variation Report for NM_001127208.3(TET2):c.2216_2264dup (p.Glu755delinsAspSerLysProAlaThrAlaAlaLysIleThrAsnLysGluTer)]

NM_001127208.3(TET2):c.2216_2264dup (p.Glu755delinsAspSerLysProAlaThrAlaAlaLysIleThrAsnLysGluTer)

Genes:

TET2-AS1:TET2 antisense RNA 1 [Gene - HGNC]
TET2:tet methylcytosine dioxygenase 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4q24

Genomic location:

Preferred name:

NM_001127208.3(TET2):c.2216_2264dup (p.Glu755delinsAspSerLysProAlaThrAlaAlaLysIleThrAsnLysGluTer)

HGVS:

NC_000004.12:g.105236158_105236206dup
NG_028191.1:g.95284_95332dup
NM_001127208.3:c.2216_2264dupMANE SELECT
NM_017628.4:c.2216_2264dup
NP_001120680.1:p.Glu755delinsAspSerLysProAlaThrAlaAlaLysIleThrAsnLysGluTer
NP_060098.3:p.Glu755delinsAspSerLysProAlaThrAlaAlaLysIleThrAsnLysGluTer
LRG_626t1:c.2216_2264dup
LRG_626t2:c.2216_2264dup
LRG_626:g.95284_95332dup
LRG_626p2:p.Glu755delinsAspSerLysProAlaThrAlaAlaLysIleThrAsnLysGluTer
NC_000004.11:g.106157315_106157363dup
NM_001127208.2:c.2216_2264dup

Links:

dbSNP: rs2110232351

NCBI 1000 Genomes Browser:

rs2110232351

Molecular consequence:

NM_001127208.3:c.2216_2264dup - nonsense - [Sequence Ontology: SO:0001587]
NM_017628.4:c.2216_2264dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV002005046	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002005046

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 23, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002005046.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine