Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ClinVar Genomic variation as it relates to human health
NM_003097.6(SNRPN):c.66A>C (p.Gln22His)
Germline
Classification
Help
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.
(1)
Help
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
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_003097.6(SNRPN):c.66A>C (p.Gln22His)
Variation ID: 1803411 Accession: VCV001803411.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 15q11.2 15: 24975420 (GRCh38) [ NCBI UCSC ] 15: 25220567 (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 17, 2022 Dec 17, 2022 Jun 9, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_003097.6:c.66A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003088.1:p.Gln22His missense NM_001349454.2:c.66A>C NP_001336383.1:p.Gln22His missense NM_001349455.2:c.66A>C NP_001336384.1:p.Gln22His missense NM_001349456.2:c.66A>C NP_001336385.1:p.Gln22His missense NM_001349457.2:c.66A>C NP_001336386.1:p.Gln22His missense NM_001349458.2:c.66A>C NP_001336387.1:p.Gln22His missense NM_001349459.2:c.66A>C NP_001336388.1:p.Gln22His missense NM_001349460.2:c.66A>C NP_001336389.1:p.Gln22His missense NM_001349461.2:c.66A>C NP_001336390.1:p.Gln22His missense NM_001349462.2:c.66A>C NP_001336391.1:p.Gln22His missense NM_001349463.2:c.66A>C NP_001336392.1:p.Gln22His missense NM_001349464.2:c.66A>C NP_001336393.1:p.Gln22His missense NM_001349465.2:c.66A>C NP_001336394.1:p.Gln22His missense NM_001378249.1:c.66A>C NP_001365178.1:p.Gln22His missense NM_001378251.1:c.78A>C NP_001365180.1:p.Gln26His missense NM_001378252.1:c.78A>C NP_001365181.1:p.Gln26His missense NM_001378253.1:c.78A>C NP_001365182.1:p.Gln26His missense NM_001378254.1:c.78A>C NP_001365183.1:p.Gln26His missense NM_001378255.1:c.78A>C NP_001365184.1:p.Gln26His missense NM_001378256.1:c.42A>C NP_001365185.1:p.Gln14His missense NM_001378257.1:c.42A>C NP_001365186.1:p.Gln14His missense NM_001400634.1:c.66A>C NP_001387563.1:p.Gln22His missense NM_001400635.1:c.66A>C NP_001387564.1:p.Gln22His missense NM_001400636.1:c.66A>C NP_001387565.1:p.Gln22His missense NM_001400637.1:c.66A>C NP_001387566.1:p.Gln22His missense NM_001400638.1:c.66A>C NP_001387567.1:p.Gln22His missense NM_001400639.1:c.66A>C NP_001387568.1:p.Gln22His missense NM_001400640.1:c.66A>C NP_001387569.1:p.Gln22His missense NM_001400641.1:c.66A>C NP_001387570.1:p.Gln22His missense NM_001400643.1:c.66A>C NP_001387572.1:p.Gln22His missense NM_001400644.1:c.66A>C NP_001387573.1:p.Gln22His missense NM_001400646.1:c.66A>C NP_001387575.1:p.Gln22His missense NM_001400647.1:c.66A>C NP_001387576.1:p.Gln22His missense NM_001400649.1:c.66A>C NP_001387578.1:p.Gln22His missense NM_001400650.1:c.66A>C NP_001387579.1:p.Gln22His missense NM_001400652.1:c.66A>C NP_001387581.1:p.Gln22His missense NM_001400683.1:c.66A>C NP_001387612.1:p.Gln22His missense NM_001400684.1:c.66A>C NP_001387613.1:p.Gln22His missense NM_001400685.1:c.66A>C NP_001387614.1:p.Gln22His missense NM_001400686.1:c.66A>C NP_001387615.1:p.Gln22His missense NM_001400687.1:c.66A>C NP_001387616.1:p.Gln22His missense NM_001400688.1:c.66A>C NP_001387617.1:p.Gln22His missense NM_001400689.1:c.66A>C NP_001387618.1:p.Gln22His missense NM_001400690.1:c.66A>C NP_001387619.1:p.Gln22His missense NM_001400691.1:c.66A>C NP_001387620.1:p.Gln22His missense NM_001400692.1:c.66A>C NP_001387621.1:p.Gln22His missense NM_001400693.1:c.66A>C NP_001387622.1:p.Gln22His missense NM_001400694.1:c.66A>C NP_001387623.1:p.Gln22His missense NM_001400695.1:c.66A>C NP_001387624.1:p.Gln22His missense NM_001400696.1:c.66A>C NP_001387625.1:p.Gln22His missense NM_001400697.1:c.66A>C NP_001387626.1:p.Gln22His missense NM_001400698.1:c.66A>C NP_001387627.1:p.Gln22His missense NM_001400701.1:c.66A>C NP_001387630.1:p.Gln22His missense NM_001400702.1:c.66A>C NP_001387631.1:p.Gln22His missense NM_001400703.1:c.66A>C NP_001387632.1:p.Gln22His missense NM_001400704.1:c.66A>C NP_001387633.1:p.Gln22His missense NM_001400706.1:c.66A>C NP_001387635.1:p.Gln22His missense NM_001400708.1:c.66A>C NP_001387637.1:p.Gln22His missense NM_001400710.1:c.66A>C NP_001387639.1:p.Gln22His missense NM_001400712.1:c.66A>C NP_001387641.1:p.Gln22His missense NM_001400713.1:c.66A>C NP_001387642.1:p.Gln22His missense NM_001400715.1:c.66A>C NP_001387644.1:p.Gln22His missense NM_001400716.1:c.66A>C NP_001387645.1:p.Gln22His missense NM_001400717.1:c.66A>C NP_001387646.1:p.Gln22His missense NM_001400718.1:c.66A>C NP_001387647.1:p.Gln22His missense NM_001400719.1:c.66A>C NP_001387648.1:p.Gln22His missense NM_001400720.1:c.66A>C NP_001387649.1:p.Gln22His missense NM_001400721.1:c.66A>C NP_001387650.1:p.Gln22His missense NM_001400722.1:c.66A>C NP_001387651.1:p.Gln22His missense NM_001400723.1:c.66A>C NP_001387652.1:p.Gln22His missense NM_001400724.1:c.66A>C NP_001387653.1:p.Gln22His missense NM_001400725.1:c.66A>C NP_001387654.1:p.Gln22His missense NM_001400726.1:c.66A>C NP_001387655.1:p.Gln22His missense NM_001400727.1:c.66A>C NP_001387656.1:p.Gln22His missense NM_001400728.1:c.66A>C NP_001387657.1:p.Gln22His missense NM_001400729.1:c.66A>C NP_001387658.1:p.Gln22His missense NM_001400730.1:c.66A>C NP_001387659.1:p.Gln22His missense NM_001400731.1:c.66A>C NP_001387660.1:p.Gln22His missense NM_001400732.1:c.66A>C NP_001387661.1:p.Gln22His missense NM_001400733.1:c.66A>C NP_001387662.1:p.Gln22His missense NM_001400734.1:c.66A>C NP_001387663.1:p.Gln22His missense NM_001400735.1:c.66A>C NP_001387664.1:p.Gln22His missense NM_001400736.1:c.66A>C NP_001387665.1:p.Gln22His missense NM_001400737.1:c.66A>C NP_001387666.1:p.Gln22His missense NM_001400738.1:c.66A>C NP_001387667.1:p.Gln22His missense NM_001400739.1:c.66A>C NP_001387668.1:p.Gln22His missense NM_001400740.1:c.66A>C NP_001387669.1:p.Gln22His missense NM_001400741.1:c.66A>C NP_001387670.1:p.Gln22His missense NM_001400742.1:c.66A>C NP_001387671.1:p.Gln22His missense NM_001400743.1:c.66A>C NP_001387672.1:p.Gln22His missense NM_001400744.1:c.66A>C NP_001387673.1:p.Gln22His missense NM_001400745.1:c.66A>C NP_001387674.1:p.Gln22His missense NM_001400746.1:c.66A>C NP_001387675.1:p.Gln22His missense NM_001400747.1:c.66A>C NP_001387676.1:p.Gln22His missense NM_001400748.1:c.66A>C NP_001387677.1:p.Gln22His missense NM_001400753.1:c.66A>C NP_001387682.1:p.Gln22His missense NM_001400754.1:c.66A>C NP_001387683.1:p.Gln22His missense NM_001400755.1:c.66A>C NP_001387684.1:p.Gln22His missense NM_001400756.1:c.66A>C NP_001387685.1:p.Gln22His missense NM_001400757.1:c.66A>C NP_001387686.1:p.Gln22His missense NM_001400758.1:c.66A>C NP_001387687.1:p.Gln22His missense NM_001400759.1:c.66A>C NP_001387688.1:p.Gln22His missense NM_001400762.1:c.66A>C NP_001387691.1:p.Gln22His missense NM_001400763.1:c.66A>C NP_001387692.1:p.Gln22His missense NM_001400764.1:c.66A>C NP_001387693.1:p.Gln22His missense NM_001400765.1:c.66A>C NP_001387694.1:p.Gln22His missense NM_001400767.1:c.42A>C NP_001387696.1:p.Gln14His missense NM_001400768.1:c.3+964A>C intron variant NM_005678.5:c.*254A>C 3 prime UTR NM_022805.5:c.66A>C NP_073716.1:p.Gln22His missense NM_022806.5:c.66A>C NP_073717.1:p.Gln22His missense NM_022807.5:c.66A>C NP_073718.1:p.Gln22His missense NM_022808.5:c.66A>C NP_073719.1:p.Gln22His missense NR_146177.1:n.968A>C non-coding transcript variant NC_000015.10:g.24975420A>C NC_000015.9:g.25220567A>C NG_012958.1:g.156774A>C - Protein change
- Q14H, Q22H, Q26H
- Other names
- -
- Canonical SPDI
- NC_000015.10:24975419:A: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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- 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. |
|||
| 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
|
Jun 9, 2022 | RCV002467081.8 |
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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|---|---|---|---|---|---|
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Uncertain significance
(Jun 09, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV002762128.1
First in ClinVar: Dec 17, 2022 Last updated: Dec 17, 2022 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge (less)
|
Comment:
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. |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
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 this variant ...
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.