NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 20, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000658310.19

Allele description [Variation Report for NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr)]

NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr)

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.470A>C (p.Lys157Thr)

HGVS:

NC_000005.10:g.162097780A>C
NG_009290.1:g.35139A>C
NM_000816.3:c.470A>C
NM_001375339.1:c.461A>C
NM_001375340.1:c.470A>C
NM_001375341.1:c.470A>C
NM_001375342.1:c.470A>C
NM_001375343.1:c.470A>C
NM_001375344.1:c.470A>C
NM_001375345.1:c.404A>C
NM_001375346.1:c.404A>C
NM_001375347.1:c.383A>C
NM_001375348.1:c.50A>C
NM_001375349.1:c.185A>C
NM_001375350.1:c.50A>C
NM_198903.2:c.470A>C
NM_198904.4:c.470A>CMANE SELECT
NP_000807.2:p.Lys157Thr
NP_001362268.1:p.Lys154Thr
NP_001362269.1:p.Lys157Thr
NP_001362270.1:p.Lys157Thr
NP_001362271.1:p.Lys157Thr
NP_001362272.1:p.Lys157Thr
NP_001362273.1:p.Lys157Thr
NP_001362274.1:p.Lys135Thr
NP_001362275.1:p.Lys135Thr
NP_001362276.1:p.Lys128Thr
NP_001362277.1:p.Lys17Thr
NP_001362278.1:p.Lys62Thr
NP_001362279.1:p.Lys17Thr
NP_944493.2:p.Lys157Thr
NP_944494.1:p.Lys157Thr
NC_000005.9:g.161524786A>C

Protein change:

K128T

Links:

dbSNP: rs770364855

NCBI 1000 Genomes Browser:

rs770364855

Molecular consequence:

NM_000816.3:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375339.1:c.461A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375340.1:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375341.1:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375342.1:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375343.1:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375344.1:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375345.1:c.404A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375346.1:c.404A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375347.1:c.383A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375348.1:c.50A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375349.1:c.185A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375350.1:c.50A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198903.2:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198904.4:c.470A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000780082	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 20, 2021)	germline	clinical testing	Citation Link,
SCV001334893	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, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000780082

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 20, 2021)

germline

clinical testing

Citation Link,

SCV001334893

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, 2020)

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

Details of each submission

From GeneDx, SCV000780082.4

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

#	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, SCV001334893.19

#	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: Apr 15, 2024

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