NM_005458.8(GABBR2):c.*299_*300insC AND not provided

NM_005458.8(GABBR2):c.299_300insC AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 20, 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:: RCV001674752.2

Allele description [Variation Report for NM_005458.8(GABBR2):c.299_300insC]

NM_005458.8(GABBR2):c.299_300insC

Gene:

GABBR2:gamma-aminobutyric acid type B receptor subunit 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

9q22.33

Genomic location:

Preferred name:

NM_005458.8(GABBR2):c.*299_*300insC

HGVS:

NC_000009.12:g.98290284_98290285insG
NG_016426.1:g.423913_423914insC
NM_005458.8:c.*299_*300insCMANE SELECT
NC_000009.11:g.101052566_101052567insG

Links:

dbSNP: rs1297371720

NCBI 1000 Genomes Browser:

rs1297371720

Molecular consequence:

NM_005458.8:c.*299_*300insC - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Alternative Splicing
Alternative Splicing
A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the pro...<br/>Year introduced: 1993

MeSH
Same Parent, Connectivity for PubChem Compound (Select 104100694) (1)
PubChem Compound
Same Parent, Connectivity for PubChem Compound (Select 154872208) (1)
PubChem Compound
Related DataSets for GEO Profiles (Select 65672766) (1)
GEO DataSets
NOTCH antagonist SAHM1 effect on T-ALL cell lines
NOTCH antagonist SAHM1 effect on T-ALL cell lines
Accession: GDS3717

GEO DataSets

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001890584	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 20, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001890584

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 20, 2019)

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, SCV001890584.1

#	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