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NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND not specified

Germline classification:
Benign (4 submissions)
Last evaluated:
Jul 15, 2024
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:
RCV000079320.28

Allele description [Variation Report for NM_198904.4(GABRG2):c.588C>T (p.Asn196=)]

NM_198904.4(GABRG2):c.588C>T (p.Asn196=)

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.588C>T (p.Asn196=)
HGVS:
  • NC_000005.10:g.162101274C>T
  • NG_009290.1:g.38633C>T
  • NM_000816.3:c.588C>T
  • NM_001375339.1:c.579C>T
  • NM_001375340.1:c.588C>T
  • NM_001375341.1:c.588C>T
  • NM_001375342.1:c.588C>T
  • NM_001375343.1:c.588C>T
  • NM_001375344.1:c.588C>T
  • NM_001375345.1:c.522C>T
  • NM_001375346.1:c.522C>T
  • NM_001375347.1:c.501C>T
  • NM_001375348.1:c.168C>T
  • NM_001375349.1:c.303C>T
  • NM_001375350.1:c.168C>T
  • NM_198903.2:c.588C>T
  • NM_198904.4:c.588C>TMANE SELECT
  • NP_000807.2:p.Asn196=
  • NP_001362268.1:p.Asn193=
  • NP_001362269.1:p.Asn196=
  • NP_001362270.1:p.Asn196=
  • NP_001362271.1:p.Asn196=
  • NP_001362272.1:p.Asn196=
  • NP_001362273.1:p.Asn196=
  • NP_001362274.1:p.Asn174=
  • NP_001362275.1:p.Asn174=
  • NP_001362276.1:p.Asn167=
  • NP_001362277.1:p.Asn56=
  • NP_001362278.1:p.Asn101=
  • NP_001362279.1:p.Asn56=
  • NP_944493.2:p.Asn196=
  • NP_944494.1:p.Asn196=
  • NC_000005.9:g.161528280C>T
  • NP_000807.2:p.(=)
  • p.Asn196Asn
Links:
dbSNP: rs211037
NCBI 1000 Genomes Browser:
rs211037
Molecular consequence:
  • NM_000816.3:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375339.1:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375340.1:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375341.1:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375342.1:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375343.1:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375344.1:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375345.1:c.522C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375346.1:c.522C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375347.1:c.501C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375348.1:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375349.1:c.303C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001375350.1:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198903.2:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198904.4:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
40

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000111190Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jul 3, 2013) 		germlineclinical testing

Citation Link,

SCV000151275Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benigngermlineclinical testing

SCV000305554PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benigngermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV005087708Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 15, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineno39not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111190.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV000151275.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From PreventionGenetics, part of Exact Sciences, SCV000305554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV005087708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided39not providednot providedclinical testing PubMed (1)

Description

This variant is classified as Benign based on local population frequency. This variant was detected in 42% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 39. Only high quality variants are reported.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot provided39not providednot providednot provided

Last Updated: Mar 11, 2025