ClinVar Genomic variation as it relates to human health
NM_003097.6(SNRPN):c.183T>C (p.Arg61=)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(1); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_003097.6(SNRPN):c.183T>C (p.Arg61=)
Variation ID: 315452 Accession: VCV000315452.10
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 15q11.2 15: 24976332 (GRCh38) [ NCBI UCSC ] 15: 25221479 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Dec 6, 2016 Dec 17, 2019 Apr 6, 2018 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_003097.6:c.183T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003088.1:p.Arg61= synonymous NM_001349454.2:c.183T>C NP_001336383.1:p.Arg61= synonymous NM_001349455.2:c.183T>C NP_001336384.1:p.Arg61= synonymous NM_001349456.2:c.183T>C NP_001336385.1:p.Arg61= synonymous NM_001349457.2:c.183T>C NP_001336386.1:p.Arg61= synonymous NM_001349458.2:c.183T>C NP_001336387.1:p.Arg61= synonymous NM_001349459.2:c.183T>C NP_001336388.1:p.Arg61= synonymous NM_001349460.2:c.183T>C NP_001336389.1:p.Arg61= synonymous NM_001349461.2:c.183T>C NP_001336390.1:p.Arg61= synonymous NM_001349462.2:c.183T>C NP_001336391.1:p.Arg61= synonymous NM_001349463.2:c.183T>C NP_001336392.1:p.Arg61= synonymous NM_001349464.2:c.183T>C NP_001336393.1:p.Arg61= synonymous NM_001349465.2:c.183T>C NP_001336394.1:p.Arg61= synonymous NM_001378249.1:c.183T>C NP_001365178.1:p.Arg61= synonymous NM_001378251.1:c.195T>C NP_001365180.1:p.Arg65= synonymous NM_001378252.1:c.195T>C NP_001365181.1:p.Arg65= synonymous NM_001378253.1:c.195T>C NP_001365182.1:p.Arg65= synonymous NM_001378254.1:c.195T>C NP_001365183.1:p.Arg65= synonymous NM_001378255.1:c.195T>C NP_001365184.1:p.Arg65= synonymous NM_001378256.1:c.159T>C NP_001365185.1:p.Arg53= synonymous NM_001378257.1:c.159T>C NP_001365186.1:p.Arg53= synonymous NM_001400634.1:c.183T>C NP_001387563.1:p.Arg61= synonymous NM_001400635.1:c.183T>C NP_001387564.1:p.Arg61= synonymous NM_001400636.1:c.183T>C NP_001387565.1:p.Arg61= synonymous NM_001400637.1:c.183T>C NP_001387566.1:p.Arg61= synonymous NM_001400638.1:c.183T>C NP_001387567.1:p.Arg61= synonymous NM_001400639.1:c.183T>C NP_001387568.1:p.Arg61= synonymous NM_001400640.1:c.183T>C NP_001387569.1:p.Arg61= synonymous NM_001400641.1:c.183T>C NP_001387570.1:p.Arg61= synonymous NM_001400643.1:c.183T>C NP_001387572.1:p.Arg61= synonymous NM_001400644.1:c.183T>C NP_001387573.1:p.Arg61= synonymous NM_001400646.1:c.183T>C NP_001387575.1:p.Arg61= synonymous NM_001400647.1:c.183T>C NP_001387576.1:p.Arg61= synonymous NM_001400649.1:c.183T>C NP_001387578.1:p.Arg61= synonymous NM_001400650.1:c.183T>C NP_001387579.1:p.Arg61= synonymous NM_001400652.1:c.183T>C NP_001387581.1:p.Arg61= synonymous NM_001400683.1:c.183T>C NP_001387612.1:p.Arg61= synonymous NM_001400684.1:c.183T>C NP_001387613.1:p.Arg61= synonymous NM_001400685.1:c.183T>C NP_001387614.1:p.Arg61= synonymous NM_001400686.1:c.183T>C NP_001387615.1:p.Arg61= synonymous NM_001400687.1:c.183T>C NP_001387616.1:p.Arg61= synonymous NM_001400688.1:c.183T>C NP_001387617.1:p.Arg61= synonymous NM_001400689.1:c.183T>C NP_001387618.1:p.Arg61= synonymous NM_001400690.1:c.183T>C NP_001387619.1:p.Arg61= synonymous NM_001400691.1:c.183T>C NP_001387620.1:p.Arg61= synonymous NM_001400692.1:c.183T>C NP_001387621.1:p.Arg61= synonymous NM_001400693.1:c.183T>C NP_001387622.1:p.Arg61= synonymous NM_001400694.1:c.183T>C NP_001387623.1:p.Arg61= synonymous NM_001400695.1:c.183T>C NP_001387624.1:p.Arg61= synonymous NM_001400696.1:c.183T>C NP_001387625.1:p.Arg61= synonymous NM_001400697.1:c.183T>C NP_001387626.1:p.Arg61= synonymous NM_001400698.1:c.183T>C NP_001387627.1:p.Arg61= synonymous NM_001400701.1:c.183T>C NP_001387630.1:p.Arg61= synonymous NM_001400702.1:c.183T>C NP_001387631.1:p.Arg61= synonymous NM_001400703.1:c.183T>C NP_001387632.1:p.Arg61= synonymous NM_001400704.1:c.183T>C NP_001387633.1:p.Arg61= synonymous NM_001400706.1:c.183T>C NP_001387635.1:p.Arg61= synonymous NM_001400708.1:c.183T>C NP_001387637.1:p.Arg61= synonymous NM_001400710.1:c.183T>C NP_001387639.1:p.Arg61= synonymous NM_001400712.1:c.183T>C NP_001387641.1:p.Arg61= synonymous NM_001400713.1:c.183T>C NP_001387642.1:p.Arg61= synonymous NM_001400715.1:c.183T>C NP_001387644.1:p.Arg61= synonymous NM_001400716.1:c.183T>C NP_001387645.1:p.Arg61= synonymous NM_001400717.1:c.183T>C NP_001387646.1:p.Arg61= synonymous NM_001400718.1:c.183T>C NP_001387647.1:p.Arg61= synonymous NM_001400719.1:c.183T>C NP_001387648.1:p.Arg61= synonymous NM_001400720.1:c.183T>C NP_001387649.1:p.Arg61= synonymous NM_001400721.1:c.183T>C NP_001387650.1:p.Arg61= synonymous NM_001400722.1:c.183T>C NP_001387651.1:p.Arg61= synonymous NM_001400723.1:c.183T>C NP_001387652.1:p.Arg61= synonymous NM_001400724.1:c.183T>C NP_001387653.1:p.Arg61= synonymous NM_001400725.1:c.183T>C NP_001387654.1:p.Arg61= synonymous NM_001400726.1:c.183T>C NP_001387655.1:p.Arg61= synonymous NM_001400727.1:c.183T>C NP_001387656.1:p.Arg61= synonymous NM_001400728.1:c.183T>C NP_001387657.1:p.Arg61= synonymous NM_001400729.1:c.183T>C NP_001387658.1:p.Arg61= synonymous NM_001400730.1:c.183T>C NP_001387659.1:p.Arg61= synonymous NM_001400731.1:c.183T>C NP_001387660.1:p.Arg61= synonymous NM_001400732.1:c.183T>C NP_001387661.1:p.Arg61= synonymous NM_001400733.1:c.183T>C NP_001387662.1:p.Arg61= synonymous NM_001400734.1:c.183T>C NP_001387663.1:p.Arg61= synonymous NM_001400735.1:c.183T>C NP_001387664.1:p.Arg61= synonymous NM_001400736.1:c.183T>C NP_001387665.1:p.Arg61= synonymous NM_001400737.1:c.183T>C NP_001387666.1:p.Arg61= synonymous NM_001400738.1:c.183T>C NP_001387667.1:p.Arg61= synonymous NM_001400739.1:c.183T>C NP_001387668.1:p.Arg61= synonymous NM_001400740.1:c.183T>C NP_001387669.1:p.Arg61= synonymous NM_001400741.1:c.183T>C NP_001387670.1:p.Arg61= synonymous NM_001400742.1:c.183T>C NP_001387671.1:p.Arg61= synonymous NM_001400743.1:c.183T>C NP_001387672.1:p.Arg61= synonymous NM_001400744.1:c.183T>C NP_001387673.1:p.Arg61= synonymous NM_001400745.1:c.183T>C NP_001387674.1:p.Arg61= synonymous NM_001400746.1:c.183T>C NP_001387675.1:p.Arg61= synonymous NM_001400747.1:c.183T>C NP_001387676.1:p.Arg61= synonymous NM_001400748.1:c.183T>C NP_001387677.1:p.Arg61= synonymous NM_001400753.1:c.183T>C NP_001387682.1:p.Arg61= synonymous NM_001400754.1:c.183T>C NP_001387683.1:p.Arg61= synonymous NM_001400755.1:c.183T>C NP_001387684.1:p.Arg61= synonymous NM_001400756.1:c.183T>C NP_001387685.1:p.Arg61= synonymous NM_001400757.1:c.183T>C NP_001387686.1:p.Arg61= synonymous NM_001400758.1:c.183T>C NP_001387687.1:p.Arg61= synonymous NM_001400759.1:c.183T>C NP_001387688.1:p.Arg61= synonymous NM_001400762.1:c.183T>C NP_001387691.1:p.Arg61= synonymous NM_001400763.1:c.183T>C NP_001387692.1:p.Arg61= synonymous NM_001400764.1:c.183T>C NP_001387693.1:p.Arg61= synonymous NM_001400765.1:c.183T>C NP_001387694.1:p.Arg61= synonymous NM_001400767.1:c.159T>C NP_001387696.1:p.Arg53= synonymous NM_001400768.1:c.4-545T>C intron variant NM_005678.5:c.*371T>C 3 prime UTR NM_022805.5:c.183T>C NP_073716.1:p.Arg61= synonymous NM_022806.5:c.183T>C NP_073717.1:p.Arg61= synonymous NM_022807.5:c.183T>C NP_073718.1:p.Arg61= synonymous NM_022808.5:c.183T>C NP_073719.1:p.Arg61= synonymous NR_146177.1:n.1085T>C non-coding transcript variant NC_000015.10:g.24976332T>C NC_000015.9:g.25221479T>C NG_012958.1:g.157686T>C - Protein change
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- Other names
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- Canonical SPDI
- NC_000015.10:24976331:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
The Genome Aggregation Database (gnomAD), exomes 0.00030
The Genome Aggregation Database (gnomAD) 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00032
Exome Aggregation Consortium (ExAC) 0.00037
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| SNURF | - | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 371 |
| SNRPN | No evidence available | No evidence available |
GRCh38 GRCh37 |
3 | 401 | |
| SNHG14 | - | - | GRCh38 | 4 | 1136 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Jun 14, 2016 | RCV000261541.14 | |
| Likely benign (1) |
criteria provided, single submitter
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Apr 6, 2018 | RCV000909620.13 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Jun 14, 2016)
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criteria provided, single submitter
Method: clinical testing
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Autism Spectrum Disorders
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000390121.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
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Likely benign
(Apr 06, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001054435.1
First in ClinVar: Dec 17, 2019 Last updated: Dec 17, 2019 |
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Germline Functional Evidence
| 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 germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs373215950 ...
HelpRecord last updated Dec 22, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.