NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) AND Inborn genetic diseases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 22, 2023
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:: RCV002337049.2

Allele description [Variation Report for NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)]

NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)

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.1207A>G (p.Thr403Ala)

HGVS:

NC_000005.10:g.162153147A>G
NG_009290.1:g.90506A>G
NM_000816.3:c.1183A>G
NM_001375339.1:c.1198A>G
NM_001375340.1:c.*41A>G
NM_001375341.1:c.1204A>G
NM_001375342.1:c.1180A>G
NM_001375343.1:c.1303A>G
NM_001375344.1:c.1246A>G
NM_001375345.1:c.1117A>G
NM_001375346.1:c.1141A>G
NM_001375347.1:c.1120A>G
NM_001375348.1:c.763A>G
NM_001375349.1:c.898A>G
NM_001375350.1:c.787A>G
NM_198903.2:c.1327A>G
NM_198904.4:c.1207A>GMANE SELECT
NP_000807.2:p.Thr395Ala
NP_001362268.1:p.Thr400Ala
NP_001362270.1:p.Thr402Ala
NP_001362271.1:p.Thr394Ala
NP_001362272.1:p.Thr435Ala
NP_001362273.1:p.Thr416Ala
NP_001362274.1:p.Thr373Ala
NP_001362275.1:p.Thr381Ala
NP_001362276.1:p.Thr374Ala
NP_001362277.1:p.Thr255Ala
NP_001362278.1:p.Thr300Ala
NP_001362279.1:p.Thr263Ala
NP_944493.2:p.Thr443Ala
NP_944494.1:p.Thr403Ala
NC_000005.9:g.161580153A>G

Protein change:

T255A

Links:

dbSNP: rs757868774

NCBI 1000 Genomes Browser:

rs757868774

Molecular consequence:

NM_001375340.1:c.*41A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000816.3:c.1183A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375339.1:c.1198A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375341.1:c.1204A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375342.1:c.1180A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375343.1:c.1303A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375344.1:c.1246A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375345.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375346.1:c.1141A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375347.1:c.1120A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375348.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375349.1:c.898A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375350.1:c.787A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198903.2:c.1327A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198904.4:c.1207A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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FSU_0218 AND (alive[prop]) (0)
Gene
Lancefieldella parvula DSM 20469, complete sequence
Lancefieldella parvula DSM 20469, complete sequence
gi|257783814|ref|NC_013203.1|

Nucleotide
At.38689 AND (alive[prop]) (1)
Gene
BLH8 BEL1-like homeodomain 8 [Arabidopsis thaliana]
BLH8 BEL1-like homeodomain 8 [Arabidopsis thaliana]
Gene ID:817343

Gene
guanylyltransferase [African swine fever virus]
guanylyltransferase [African swine fever virus]
gi|723633599|gb|AIY22450.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002635905	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Nov 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002635905

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Nov 22, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002635905.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Sep 29, 2024

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