NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 14, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003325319.3

Allele description [Variation Report for NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)]

NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)

Gene:
GABRB2:gamma-aminobutyric acid type A receptor subunit beta2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)
HGVS:
  • NC_000005.10:g.161459709C>T
  • NG_047050.1:g.93416G>A
  • NM_000813.3:c.373G>A
  • NM_001371727.1:c.373G>AMANE SELECT
  • NM_021911.2:c.373G>A
  • NM_021911.3:c.373G>A
  • NP_000804.1:p.Asp125Asn
  • NP_001358656.1:p.Asp125Asn
  • NP_068711.1:p.Asp125Asn
  • NC_000005.9:g.160886715C>T
Protein change:
D125N
Molecular consequence:
  • NM_000813.3:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371727.1:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021911.3:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004031300Molecular Genetics laboratory, Necker Hospital
no assertion criteria provided
Pathogenic
(Jun 14, 2022) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Molecular Genetics laboratory, Necker Hospital, SCV004031300.1

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

Last Updated: Aug 11, 2024