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NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) AND Autosomal dominant nonsyndromic hearing loss 41

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2014
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:
RCV000143843.3

Allele description [Variation Report for NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg)]

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)

Name:
Autosomal dominant nonsyndromic hearing loss 41
Synonyms:
Deafness, autosomal dominant 41
Identifiers:
MONDO: MONDO:0011994; MedGen: C1842371; Orphanet: 90635; OMIM: 608224

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188728OMIM
no assertion criteria provided
Pathogenic
(Jan 25, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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

Details of each submission

From OMIM, SCV000188728.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a large Italian family with DFNA41 (608224), Faletra et al. (2014) identified a heterozygous c.1057G-C transversion in exon 10 of the P2RX2 gene, resulting in a gly353-to-arg (G353R) substitution at a highly conserved residue. The mutation segregated with the phenotype in the family and was not found in 500 ethnically matched chromosomes. Three-dimensional molecular modeling showed that the substitution occurs at the C terminus of the TM2 helix, embedded near or within the lipid channel bilayer, likely causing destabilization or structural distortion of the channel.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024