NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=) AND multiple conditions

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 30, 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:: RCV000868962.8

Allele description [Variation Report for NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=)]

NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=)

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.1086T>C (p.Ile362=)

Other names:

p.I362I:ATT>ATC

HGVS:

NC_000005.10:g.161897137T>C
NG_011548.1:g.54947T>C
NM_000806.5:c.1086T>C
NM_001127643.2:c.1086T>C
NM_001127644.2:c.1086T>CMANE SELECT
NM_001127645.2:c.1086T>C
NM_001127648.2:c.1086T>C
NP_000797.2:p.Ile362=
NP_001121115.1:p.Ile362=
NP_001121116.1:p.Ile362=
NP_001121117.1:p.Ile362=
NP_001121120.1:p.Ile362=
NC_000005.9:g.161324143T>C

Links:

dbSNP: rs187648029

NCBI 1000 Genomes Browser:

rs187648029

Molecular consequence:

NM_000806.5:c.1086T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127643.2:c.1086T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127644.2:c.1086T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127645.2:c.1086T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127648.2:c.1086T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Idiopathic generalized epilepsy
Synonyms:: EIG; Generalised epilepsy
Identifiers:: MONDO: MONDO:0005579; MedGen: C0270850; OMIM: 600669; OMIM: PS600669

Name:: Epilepsy, idiopathic generalized, susceptibility to, 13
Synonyms:: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5; Epilepsy, juvenile myoclonic 5
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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001010349	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Aug 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001010349

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Aug 30, 2023)

germline

clinical testing

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

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

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, SCV001010349.6

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

#	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: Mar 5, 2024

ClinVar

Relating variation to medicine