NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 11, 2024
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:: RCV001223368.7

Allele description [Variation Report for NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)]

NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

5q34

Genomic location:

Preferred name:

NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)

HGVS:

NC_000005.10:g.162149298_162149300del
NG_009290.1:g.86657_86659del
NM_000816.3:c.1113_1115del
NM_001375339.1:c.1104_1106del
NM_001375340.1:c.923-2432_923-2430del
NM_001375341.1:c.1110_1112del
NM_001375342.1:c.1110_1112del
NM_001375343.1:c.1233_1235del
NM_001375344.1:c.1152_1154del
NM_001375345.1:c.1047_1049del
NM_001375346.1:c.1047_1049del
NM_001375347.1:c.1026_1028del
NM_001375348.1:c.693_695del
NM_001375349.1:c.828_830del
NM_001375350.1:c.693_695del
NM_198903.2:c.1233_1235del
NM_198904.4:c.1113_1115delMANE SELECT
NP_000807.2:p.Lys374del
NP_001362268.1:p.Lys371del
NP_001362270.1:p.Lys373del
NP_001362271.1:p.Lys373del
NP_001362272.1:p.Lys414del
NP_001362273.1:p.Lys387del
NP_001362274.1:p.Lys352del
NP_001362275.1:p.Lys352del
NP_001362276.1:p.Lys345del
NP_001362277.1:p.Lys234del
NP_001362278.1:p.Lys279del
NP_001362279.1:p.Lys234del
NP_944493.2:p.Lys414del
NP_944494.1:p.Lys374del
NC_000005.9:g.161576302_161576304del
NC_000005.9:g.161576304_161576306del
NM_000816.3:c.1113_1115delAAA
p.K374del

Protein change:

K234del

Links:

dbSNP: rs727503941

NCBI 1000 Genomes Browser:

rs727503941

Molecular consequence:

NM_000816.3:c.1113_1115del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375339.1:c.1104_1106del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375341.1:c.1110_1112del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375342.1:c.1110_1112del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375343.1:c.1233_1235del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375344.1:c.1152_1154del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375345.1:c.1047_1049del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375346.1:c.1047_1049del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375347.1:c.1026_1028del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375348.1:c.693_695del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375349.1:c.828_830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375350.1:c.693_695del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198903.2:c.1233_1235del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_198904.4:c.1113_1115del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001375340.1:c.923-2432_923-2430del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 (ECA2)
Identifiers:: MedGen: C1843244; Orphanet: 64280

Name:: Febrile seizures, familial, 8 (FEB8)
Synonyms:: CONVULSIONS, FAMILIAL FEBRILE, 8
Identifiers:: MONDO: MONDO:0011891; MedGen: C1969810; Orphanet: 36387; OMIM: 607681

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001395513	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 11, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30660939, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001395513

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 11, 2024)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures.

Angione K, Eschbach K, Smith G, Joshi C, Demarest S.

Epilepsy Res. 2019 Feb;150:70-77. doi: 10.1016/j.eplepsyres.2019.01.008. Epub 2019 Jan 14.

PubMed [citation]

PMID:: 30660939

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, SCV001395513.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant, c.1113_1115del, results in the deletion of 1 amino acid(s) of the GABRG2 protein (p.Lys374del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs749611954, gnomAD 0.01%). This variant has been observed in individual(s) with epilepsy (PMID: 30660939). ClinVar contains an entry for this variant (Variation ID: 167117). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Apr 13, 2025

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