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NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser) AND Febrile seizures, familial, 8

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002250004.1

Allele description [Variation Report for NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser)]

NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser)

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.929C>G (p.Thr310Ser)
HGVS:
  • NC_000005.10:g.162149114C>G
  • NG_009290.1:g.86473C>G
  • NM_000816.3:c.929C>G
  • NM_001375339.1:c.920C>G
  • NM_001375340.1:c.923-2616C>G
  • NM_001375341.1:c.926C>G
  • NM_001375342.1:c.926C>G
  • NM_001375343.1:c.1049C>G
  • NM_001375344.1:c.968C>G
  • NM_001375345.1:c.863C>G
  • NM_001375346.1:c.863C>G
  • NM_001375347.1:c.842C>G
  • NM_001375348.1:c.509C>G
  • NM_001375349.1:c.644C>G
  • NM_001375350.1:c.509C>G
  • NM_198903.2:c.1049C>G
  • NM_198904.4:c.929C>GMANE SELECT
  • NP_000807.2:p.Thr310Ser
  • NP_001362268.1:p.Thr307Ser
  • NP_001362270.1:p.Thr309Ser
  • NP_001362271.1:p.Thr309Ser
  • NP_001362272.1:p.Thr350Ser
  • NP_001362273.1:p.Thr323Ser
  • NP_001362274.1:p.Thr288Ser
  • NP_001362275.1:p.Thr288Ser
  • NP_001362276.1:p.Thr281Ser
  • NP_001362277.1:p.Thr170Ser
  • NP_001362278.1:p.Thr215Ser
  • NP_001362279.1:p.Thr170Ser
  • NP_944493.2:p.Thr350Ser
  • NP_944494.1:p.Thr310Ser
  • NC_000005.9:g.161576120C>G
Protein change:
T170S
Links:
dbSNP: rs2113632484
NCBI 1000 Genomes Browser:
rs2113632484
Molecular consequence:
  • NM_001375340.1:c.923-2616C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000816.3:c.929C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375339.1:c.920C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375341.1:c.926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375342.1:c.926C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375343.1:c.1049C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375344.1:c.968C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375345.1:c.863C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375346.1:c.863C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375347.1:c.842C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375348.1:c.509C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375349.1:c.644C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375350.1:c.509C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198903.2:c.1049C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198904.4:c.929C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002516430Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002516430.1

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

Last Updated: Dec 24, 2023