NM_198904.4(GABRG2):c.272T>G (p.Leu91Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 29, 2014
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:: RCV000187544.1

Allele description [Variation Report for NM_198904.4(GABRG2):c.272T>G (p.Leu91Ter)]

NM_198904.4(GABRG2):c.272T>G (p.Leu91Ter)

Gene:

GABRG2:gamma-aminobutyric acid type A receptor subunit gamma2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q34

Genomic location:

Preferred name:

NM_198904.4(GABRG2):c.272T>G (p.Leu91Ter)

Other names:

p.L91*:TTA>TGA

HGVS:

NC_000005.10:g.162095507T>G
NG_009290.1:g.32866T>G
NM_000816.3:c.272T>G
NM_001375339.1:c.263T>G
NM_001375340.1:c.272T>G
NM_001375341.1:c.272T>G
NM_001375342.1:c.272T>G
NM_001375343.1:c.272T>G
NM_001375344.1:c.272T>G
NM_001375345.1:c.206T>G
NM_001375346.1:c.206T>G
NM_001375347.1:c.185T>G
NM_001375348.1:c.-87T>G
NM_001375349.1:c.-14T>G
NM_001375350.1:c.-87T>G
NM_198903.2:c.272T>G
NM_198904.4:c.272T>GMANE SELECT
NP_000807.2:p.Leu91Ter
NP_001362268.1:p.Leu88Ter
NP_001362269.1:p.Leu91Ter
NP_001362270.1:p.Leu91Ter
NP_001362271.1:p.Leu91Ter
NP_001362272.1:p.Leu91Ter
NP_001362273.1:p.Leu91Ter
NP_001362274.1:p.Leu69Ter
NP_001362275.1:p.Leu69Ter
NP_001362276.1:p.Leu62Ter
NP_944493.2:p.Leu91Ter
NP_944494.1:p.Leu91Ter
NC_000005.9:g.161522513T>G

Protein change:

L62*

Links:

dbSNP: rs796052518

NCBI 1000 Genomes Browser:

rs796052518

Molecular consequence:

NM_001375348.1:c.-87T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001375349.1:c.-14T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001375350.1:c.-87T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000816.3:c.272T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375339.1:c.263T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375340.1:c.272T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375341.1:c.272T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375342.1:c.272T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375343.1:c.272T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375344.1:c.272T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375345.1:c.206T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375346.1:c.206T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001375347.1:c.185T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_198903.2:c.272T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_198904.4:c.272T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000241138	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 29, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000241138

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 29, 2014)

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, SCV000241138.11

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

Description

p.Leu91Ter (TTA>TGA): c.272 T>G in exon 3 of the GABRG2 gene (NM_000816.3) The L91X nonsense mutation in the GABRG2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this mutation has not been published previously to our knowledge, it is interpreted as pathogenic. The variant is found in EPILEPSY panel(s).

#	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: Apr 23, 2022

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