NM_207122.2(EXT2):c.744-83_744-82insG AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 28, 2018
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:: RCV001675110.2

Allele description [Variation Report for NM_207122.2(EXT2):c.744-83_744-82insG]

NM_207122.2(EXT2):c.744-83_744-82insG

Gene:

EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_207122.2(EXT2):c.744-83_744-82insG

HGVS:

NC_000011.10:g.44124706_44124707insG
NG_007560.1:g.34158_34159insG
NM_000401.3:c.843-83_843-82insG
NM_001178083.3:c.744-83_744-82insG
NM_001389628.1:c.744-83_744-82insG
NM_001389630.1:c.744-83_744-82insG
NM_207122.2:c.744-83_744-82insGMANE SELECT
LRG_494t1:c.843-83_843-82insG
LRG_494:g.34158_34159insG
NC_000011.9:g.44146256_44146257insG

Links:

dbSNP: rs200495080

NCBI 1000 Genomes Browser:

rs200495080

Molecular consequence:

NM_000401.3:c.843-83_843-82insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001178083.3:c.744-83_744-82insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001389628.1:c.744-83_744-82insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001389630.1:c.744-83_744-82insG - intron variant - [Sequence Ontology: SO:0001627]
NM_207122.2:c.744-83_744-82insG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

LOC115463315 [Microcaecilia unicolor]
LOC115463315 [Microcaecilia unicolor]
Gene ID:115463315

Gene

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
SCV001892761	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Oct 28, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001892761

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Oct 28, 2018)

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, SCV001892761.1

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

#	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