NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Feb 1, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000723908.16

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000202771	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Apr 3, 2014)	germline	clinical testing	Citation Link,
SCV000241137	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 30, 2019)	germline	clinical testing	Citation Link,
SCV004698764	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Feb 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000202771

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Apr 3, 2014)

germline

clinical testing

Citation Link,

SCV000241137

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 30, 2019)

germline

clinical testing

Citation Link,

SCV004698764

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Feb 1, 2024)

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	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000202771.7

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

From GeneDx, SCV000241137.12

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

Description

This variant is associated with the following publications: (PMID: 30660939)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004698764.8

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

Last Updated: Oct 20, 2024

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