NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 19, 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:: RCV002512553.2

Allele description

NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg)

Gene:

P2RX2:purinergic receptor P2X 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

Preferred name:

NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg)

Other names:

P2RX2, GLY353ARG

HGVS:

NC_000012.12:g.132621535G>C
NG_033909.1:g.7756G>C
NM_001282164.2:c.955G>C
NM_001282165.2:c.*26G>C
NM_012226.5:c.841G>C
NM_016318.4:c.985G>C
NM_170682.4:c.1057G>CMANE SELECT
NM_170683.4:c.1057G>C
NM_174872.3:c.781G>C
NM_174873.3:c.1057G>C
NP_001269093.1:p.Gly319Arg
NP_036358.2:p.Gly281Arg
NP_057402.1:p.Gly329Arg
NP_733782.1:p.Gly353Arg
NP_733783.1:p.Gly353Arg
NP_777361.1:p.Gly261Arg
NP_777362.1:p.Gly353Arg
NC_000012.11:g.133198121G>C
NM_170682.3:c.1057G>C
Q9UBL9:p.Gly353Arg

Protein change:

G261R; GLY353ARG

Links:

UniProtKB: Q9UBL9#VAR_070688; OMIM: 600844.0002; dbSNP: rs202138002

NCBI 1000 Genomes Browser:

rs202138002

Molecular consequence:

NM_001282165.2:c.*26G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001282164.2:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_012226.5:c.841G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_016318.4:c.985G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_170682.4:c.1057G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_170683.4:c.1057G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_174872.3:c.781G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_174873.3:c.1057G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003442043	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 19, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 31636190, 24211385, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003442043

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 19, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Hearing loss mutations alter the functional properties of human P2X2 receptor channels through distinct mechanisms.

George B, Swartz KJ, Li M.

Proc Natl Acad Sci U S A. 2019 Nov 5;116(45):22862-22871. doi: 10.1073/pnas.1912156116. Epub 2019 Oct 21.

PubMed [citation]

PMID:: 31636190
PMCID:: PMC6842632

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P.

Gene. 2014 Jan 25;534(2):236-9. doi: 10.1016/j.gene.2013.10.052. Epub 2013 Nov 6.

PubMed [citation]

PMID:: 24211385

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003442043.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 353 of the P2RX2 protein (p.Gly353Arg). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects P2RX2 function (PMID: 31636190). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 155763). This missense change has been observed in individual(s) with autosomal dominant deafness (PMID: 24211385). It has also been observed to segregate with disease in related individuals.

#	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: Feb 14, 2024

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