NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn) AND multiple conditions

Clinical significance:Benign (Last evaluated: Jan 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001033996.2

Allele description [Variation Report for NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn)]

NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn)

Gene:
GABRA1:gamma-aminobutyric acid type A receptor subunit alpha1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn)
Other names:
p.S4N:AGT>AAT
HGVS:
  • NC_000005.10:g.161850821G>A
  • NG_011548.1:g.8631G>A
  • NM_000806.5:c.11G>A
  • NM_001127643.2:c.11G>A
  • NM_001127644.2:c.11G>AMANE SELECT
  • NM_001127645.2:c.11G>A
  • NM_001127648.2:c.11G>A
  • NP_000797.2:p.Ser4Asn
  • NP_001121115.1:p.Ser4Asn
  • NP_001121116.1:p.Ser4Asn
  • NP_001121117.1:p.Ser4Asn
  • NP_001121120.1:p.Ser4Asn
  • NC_000005.9:g.161277827G>A
Protein change:
S4N
Links:
dbSNP: rs796052487
NCBI 1000 Genomes Browser:
rs796052487
Molecular consequence:
  • NM_000806.5:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127643.2:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127644.2:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127645.2:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127648.2:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Idiopathic generalized epilepsy
Synonyms:
EIG; Generalised epilepsy
Identifiers:
MONDO: MONDO:0005579; MedGen: C0270850; OMIM: 600669; OMIM: PS600669
Name:
Epilepsy, juvenile myoclonic 5 (EIG13)
Synonyms:
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
Identifiers:
MONDO: MONDO:0012627; MedGen: C4013473; Orphanet: 307; Orphanet: 64280; OMIM: 611136
Name:
Epilepsy, childhood absence 4 (ECA4)
Synonyms:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4
Identifiers:
MedGen: C1970160; Orphanet: 307

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001197321Invitaecriteria provided, single submitter
Benign
(Jan 27, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001197321.2

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

Last Updated: Jun 14, 2021

Support Center