NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys) AND Deafness, autosomal recessive 68

Clinical significance:Pathogenic (Last evaluated: Oct 19, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000210070.4

Allele description [Variation Report for NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)]

NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)

Gene:
S1PR2:sphingosine-1-phosphate receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)
Other names:
S1PR2, TYR140CYS
HGVS:
  • NC_000019.10:g.10224487T>C
  • NG_028016.3:g.11800A>G
  • NG_046802.1:g.12321A>G
  • NM_004230.4:c.419A>GMANE SELECT
  • NP_004221.3:p.Tyr140Cys
  • LRG_1356t1:c.419A>G
  • LRG_1356:g.12321A>G
  • LRG_1356p1:p.Tyr140Cys
  • LRG_362:g.11800A>G
  • NC_000019.9:g.10335163T>C
  • NM_004230.3:c.419A>G
  • O95136:p.Tyr140Cys
Protein change:
Y140C; TYR140CYS
Links:
UniProtKB: O95136#VAR_076392; OMIM: 605111.0002; dbSNP: rs869312750
NCBI 1000 Genomes Browser:
rs869312750
Molecular consequence:
  • NM_004230.4:c.419A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 68 (DFNB68)
Identifiers:
MONDO: MONDO:0012485; MedGen: C1835854; Orphanet: 90636; OMIM: 610419

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258417National Institute on Deafness and Communication Disorders,National Institutes of Healthno assertion criteria providedPathogenic
(Jan 8, 2016)
germlineresearch

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

SCV000265989OMIMno assertion criteria providedPathogenic
(Oct 19, 2017)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ; et al.

Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21.

PubMed [citation]
PMID:
26805784
PMCID:
PMC4746333

Details of each submission

From National Institute on Deafness and Communication Disorders,National Institutes of Health, SCV000258417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From OMIM, SCV000265989.2

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

Description

In affected members of a consanguineous Pakistani family (PKDF1400) with congenital profound deafness mapping to chromosome 19 (DFNB68; 610419), Santos-Cortez et al. (2016) identified homozygosity for a c.419A-G transition (c.419A-G, NM_004230.3) in the S1PR2 gene, resulting in a tyr140-to-cys (Y140C) substitution at a highly conserved residue within intracellular loop 2 (ICL2). The mutation segregated with disease in the family and was not found in 720 Pakistani control chromosomes, in 76 in-house exomes from unrelated Pakistani individuals with nondeafness phenotypes, or in the dbSNP or ExAC databases.

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

Last Updated: Sep 29, 2021

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