NM_000807.4(GABRA2):c.110A>G (p.Asn37Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 13, 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:: RCV003558241.3

Allele description [Variation Report for NM_000807.4(GABRA2):c.110A>G (p.Asn37Ser)]

NM_000807.4(GABRA2):c.110A>G (p.Asn37Ser)

Gene:

GABRA2:gamma-aminobutyric acid type A receptor subunit alpha2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p12

Genomic location:

Preferred name:

NM_000807.4(GABRA2):c.110A>G (p.Asn37Ser)

HGVS:

NC_000004.12:g.46386151T>C
NG_012835.2:g.8889A>G
NM_000807.4:c.110A>GMANE SELECT
NM_001114175.3:c.110A>G
NM_001286827.3:c.13A>G
NM_001330690.2:c.110A>G
NM_001377144.1:c.110A>G
NM_001377145.1:c.110A>G
NM_001377146.1:c.110A>G
NM_001377147.1:c.110A>G
NM_001377148.1:c.110A>G
NM_001377149.1:c.110A>G
NM_001377150.1:c.110A>G
NM_001377151.1:c.110A>G
NM_001377152.1:c.13A>G
NM_001377153.1:c.13A>G
NM_001377154.1:c.13A>G
NM_001377155.1:c.110A>G
NP_000798.2:p.Asn37Ser
NP_001107647.1:p.Asn37Ser
NP_001273756.1:p.Ile5Val
NP_001317619.1:p.Asn37Ser
NP_001364073.1:p.Asn37Ser
NP_001364074.1:p.Asn37Ser
NP_001364075.1:p.Asn37Ser
NP_001364076.1:p.Asn37Ser
NP_001364077.1:p.Asn37Ser
NP_001364078.1:p.Asn37Ser
NP_001364079.1:p.Asn37Ser
NP_001364080.1:p.Asn37Ser
NP_001364081.1:p.Ile5Val
NP_001364082.1:p.Ile5Val
NP_001364083.1:p.Ile5Val
NP_001364084.1:p.Asn37Ser
NC_000004.11:g.46388168T>C

Protein change:

I5V

Molecular consequence:

NM_000807.4:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001114175.3:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286827.3:c.13A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330690.2:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377144.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377145.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377146.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377147.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377148.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377149.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377150.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377151.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377152.1:c.13A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377153.1:c.13A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377154.1:c.13A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377155.1:c.110A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Homo sapiens FSHD region gene 1 family member C, pseudogene (FRG1CP), non-coding...
Homo sapiens FSHD region gene 1 family member C, pseudogene (FRG1CP), non-coding RNA
gi|878303083|ref|NR_132315.1|

Nucleotide
Petroica multicolor cognata voucher AMNH:336852 NADH dehydrogenase subunit 2 (ND...
Petroica multicolor cognata voucher AMNH:336852 NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrial
gi|746769987|gb|KP203824.1|

Nucleotide
Petroica rosea voucher ANWC:ANWC B43698 cytochrome oxidase subunit I (COI) gene,...
Petroica rosea voucher ANWC:ANWC B43698 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial
gi|985789941|gb|KT388370.1|

Nucleotide
LOC102723752 [Homo sapiens]
LOC102723752 [Homo sapiens]
Gene ID:102723752

Gene
LOC105374740 [Homo sapiens]
LOC105374740 [Homo sapiens]
Gene ID:105374740

Gene

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
SCV004305452	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 13, 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

SCV004305452

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 13, 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004305452.1

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

Description

This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 37 of the GABRA2 protein (p.Asn37Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GABRA2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine