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

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Mar 15, 2016)
Last evaluated:
Oct 19, 2017
Accession:
VCV000219249.2
Variation ID:
219249
Description:
single nucleotide variant
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NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys)

Allele ID
217271
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 10224487 (GRCh38) GRCh38 UCSC
19: 10335163 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
O95136:p.Tyr140Cys
LRG_362:g.11800A>G
LRG_1356:g.12321A>G
... more HGVS
Protein change
Y140C
Other names
S1PR2, TYR140CYS
Canonical SPDI
NC_000019.10:10224486:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA353485
UniProtKB: O95136#VAR_076392
OMIM: 605111.0002
dbSNP: rs869312750
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Oct 19, 2017 RCV000210070.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
S1PR2 - - GRCh38
GRCh37
42 51

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 08, 2016)
no assertion criteria provided
Method: research
Deafness, autosomal recessive 68
Allele origin: germline
National Institute on Deafness and Communication Disorders,National Institutes of Health
Accession: SCV000258417.1
Submitted: (Jan 08, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 19, 2017)
no assertion criteria provided
Method: literature only
DEAFNESS, AUTOSOMAL RECESSIVE 68
Allele origin: germline
OMIM
Accession: SCV000265989.2
Submitted: (Mar 15, 2016)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Santos-Cortez RL American journal of human genetics 2016 PMID: 26805784

Text-mined citations for rs869312750...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021