The c.698C>A (p.P233Q) alteration is located in exon 13 (coding exon 7) of the SNRPN gene. This alteration results from a C to A substitution at nucleotide position 698, causing the proline (P) at amino acid position 233 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_003097.6(SNRPN):c.698C>A (p.Pro233Gln)
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.698C>A (p.Pro233Gln)
Variation ID: 2485142 Accession: VCV002485142.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 15q11.2 15: 24978419 (GRCh38) [ NCBI UCSC ] 15: 25223566 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Apr 15, 2023 May 1, 2024 Feb 15, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_003097.6:c.698C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003088.1:p.Pro233Gln missense NM_001349454.2:c.698C>A NP_001336383.1:p.Pro233Gln missense NM_001349455.2:c.698C>A NP_001336384.1:p.Pro233Gln missense NM_001349456.2:c.698C>A NP_001336385.1:p.Pro233Gln missense NM_001349457.2:c.698C>A NP_001336386.1:p.Pro233Gln missense NM_001349458.2:c.698C>A NP_001336387.1:p.Pro233Gln missense NM_001349459.2:c.698C>A NP_001336388.1:p.Pro233Gln missense NM_001349460.2:c.698C>A NP_001336389.1:p.Pro233Gln missense NM_001349461.2:c.698C>A NP_001336390.1:p.Pro233Gln missense NM_001349462.2:c.698C>A NP_001336391.1:p.Pro233Gln missense NM_001349463.2:c.698C>A NP_001336392.1:p.Pro233Gln missense NM_001349464.2:c.698C>A NP_001336393.1:p.Pro233Gln missense NM_001349465.2:c.698C>A NP_001336394.1:p.Pro233Gln missense NM_001378249.1:c.698C>A NP_001365178.1:p.Pro233Gln missense NM_001378251.1:c.710C>A NP_001365180.1:p.Pro237Gln missense NM_001378252.1:c.710C>A NP_001365181.1:p.Pro237Gln missense NM_001378253.1:c.710C>A NP_001365182.1:p.Pro237Gln missense NM_001378254.1:c.710C>A NP_001365183.1:p.Pro237Gln missense NM_001378255.1:c.710C>A NP_001365184.1:p.Pro237Gln missense NM_001378256.1:c.674C>A NP_001365185.1:p.Pro225Gln missense NM_001378257.1:c.674C>A NP_001365186.1:p.Pro225Gln missense NM_001400634.1:c.698C>A NP_001387563.1:p.Pro233Gln missense NM_001400635.1:c.698C>A NP_001387564.1:p.Pro233Gln missense NM_001400636.1:c.698C>A NP_001387565.1:p.Pro233Gln missense NM_001400637.1:c.698C>A NP_001387566.1:p.Pro233Gln missense NM_001400638.1:c.698C>A NP_001387567.1:p.Pro233Gln missense NM_001400639.1:c.698C>A NP_001387568.1:p.Pro233Gln missense NM_001400640.1:c.698C>A NP_001387569.1:p.Pro233Gln missense NM_001400641.1:c.698C>A NP_001387570.1:p.Pro233Gln missense NM_001400643.1:c.698C>A NP_001387572.1:p.Pro233Gln missense NM_001400644.1:c.698C>A NP_001387573.1:p.Pro233Gln missense NM_001400646.1:c.698C>A NP_001387575.1:p.Pro233Gln missense NM_001400647.1:c.698C>A NP_001387576.1:p.Pro233Gln missense NM_001400649.1:c.698C>A NP_001387578.1:p.Pro233Gln missense NM_001400650.1:c.698C>A NP_001387579.1:p.Pro233Gln missense NM_001400652.1:c.698C>A NP_001387581.1:p.Pro233Gln missense NM_001400683.1:c.698C>A NP_001387612.1:p.Pro233Gln missense NM_001400684.1:c.698C>A NP_001387613.1:p.Pro233Gln missense NM_001400685.1:c.698C>A NP_001387614.1:p.Pro233Gln missense NM_001400686.1:c.698C>A NP_001387615.1:p.Pro233Gln missense NM_001400687.1:c.698C>A NP_001387616.1:p.Pro233Gln missense NM_001400688.1:c.698C>A NP_001387617.1:p.Pro233Gln missense NM_001400689.1:c.698C>A NP_001387618.1:p.Pro233Gln missense NM_001400690.1:c.698C>A NP_001387619.1:p.Pro233Gln missense NM_001400691.1:c.698C>A NP_001387620.1:p.Pro233Gln missense NM_001400692.1:c.698C>A NP_001387621.1:p.Pro233Gln missense NM_001400693.1:c.698C>A NP_001387622.1:p.Pro233Gln missense NM_001400694.1:c.698C>A NP_001387623.1:p.Pro233Gln missense NM_001400695.1:c.698C>A NP_001387624.1:p.Pro233Gln missense NM_001400696.1:c.698C>A NP_001387625.1:p.Pro233Gln missense NM_001400697.1:c.698C>A NP_001387626.1:p.Pro233Gln missense NM_001400698.1:c.698C>A NP_001387627.1:p.Pro233Gln missense NM_001400701.1:c.698C>A NP_001387630.1:p.Pro233Gln missense NM_001400702.1:c.698C>A NP_001387631.1:p.Pro233Gln missense NM_001400703.1:c.698C>A NP_001387632.1:p.Pro233Gln missense NM_001400704.1:c.698C>A NP_001387633.1:p.Pro233Gln missense NM_001400706.1:c.698C>A NP_001387635.1:p.Pro233Gln missense NM_001400708.1:c.698C>A NP_001387637.1:p.Pro233Gln missense NM_001400710.1:c.698C>A NP_001387639.1:p.Pro233Gln missense NM_001400712.1:c.698C>A NP_001387641.1:p.Pro233Gln missense NM_001400713.1:c.698C>A NP_001387642.1:p.Pro233Gln missense NM_001400715.1:c.698C>A NP_001387644.1:p.Pro233Gln missense NM_001400716.1:c.698C>A NP_001387645.1:p.Pro233Gln missense NM_001400717.1:c.698C>A NP_001387646.1:p.Pro233Gln missense NM_001400718.1:c.698C>A NP_001387647.1:p.Pro233Gln missense NM_001400719.1:c.698C>A NP_001387648.1:p.Pro233Gln missense NM_001400720.1:c.698C>A NP_001387649.1:p.Pro233Gln missense NM_001400721.1:c.698C>A NP_001387650.1:p.Pro233Gln missense NM_001400722.1:c.698C>A NP_001387651.1:p.Pro233Gln missense NM_001400723.1:c.698C>A NP_001387652.1:p.Pro233Gln missense NM_001400724.1:c.698C>A NP_001387653.1:p.Pro233Gln missense NM_001400725.1:c.698C>A NP_001387654.1:p.Pro233Gln missense NM_001400726.1:c.698C>A NP_001387655.1:p.Pro233Gln missense NM_001400727.1:c.698C>A NP_001387656.1:p.Pro233Gln missense NM_001400728.1:c.698C>A NP_001387657.1:p.Pro233Gln missense NM_001400729.1:c.698C>A NP_001387658.1:p.Pro233Gln missense NM_001400730.1:c.698C>A NP_001387659.1:p.Pro233Gln missense NM_001400731.1:c.698C>A NP_001387660.1:p.Pro233Gln missense NM_001400732.1:c.698C>A NP_001387661.1:p.Pro233Gln missense NM_001400733.1:c.698C>A NP_001387662.1:p.Pro233Gln missense NM_001400734.1:c.698C>A NP_001387663.1:p.Pro233Gln missense NM_001400735.1:c.698C>A NP_001387664.1:p.Pro233Gln missense NM_001400736.1:c.698C>A NP_001387665.1:p.Pro233Gln missense NM_001400737.1:c.698C>A NP_001387666.1:p.Pro233Gln missense NM_001400738.1:c.698C>A NP_001387667.1:p.Pro233Gln missense NM_001400739.1:c.698C>A NP_001387668.1:p.Pro233Gln missense NM_001400740.1:c.698C>A NP_001387669.1:p.Pro233Gln missense NM_001400741.1:c.698C>A NP_001387670.1:p.Pro233Gln missense NM_001400742.1:c.698C>A NP_001387671.1:p.Pro233Gln missense NM_001400743.1:c.698C>A NP_001387672.1:p.Pro233Gln missense NM_001400744.1:c.698C>A NP_001387673.1:p.Pro233Gln missense NM_001400745.1:c.698C>A NP_001387674.1:p.Pro233Gln missense NM_001400746.1:c.698C>A NP_001387675.1:p.Pro233Gln missense NM_001400747.1:c.698C>A NP_001387676.1:p.Pro233Gln missense NM_001400748.1:c.698C>A NP_001387677.1:p.Pro233Gln missense NM_001400753.1:c.698C>A NP_001387682.1:p.Pro233Gln missense NM_001400754.1:c.698C>A NP_001387683.1:p.Pro233Gln missense NM_001400755.1:c.698C>A NP_001387684.1:p.Pro233Gln missense NM_001400756.1:c.698C>A NP_001387685.1:p.Pro233Gln missense NM_001400757.1:c.698C>A NP_001387686.1:p.Pro233Gln missense NM_001400758.1:c.698C>A NP_001387687.1:p.Pro233Gln missense NM_001400759.1:c.698C>A NP_001387688.1:p.Pro233Gln missense NM_001400762.1:c.698C>A NP_001387691.1:p.Pro233Gln missense NM_001400763.1:c.698C>A NP_001387692.1:p.Pro233Gln missense NM_001400764.1:c.686-3C>A intron variant NM_001400765.1:c.686-3C>A intron variant NM_001400767.1:c.674C>A NP_001387696.1:p.Pro225Gln missense NM_001400768.1:c.434C>A NP_001387697.1:p.Pro145Gln missense NM_005678.5:c.*886C>A 3 prime UTR NM_022805.5:c.698C>A NP_073716.1:p.Pro233Gln missense NM_022806.5:c.698C>A NP_073717.1:p.Pro233Gln missense NM_022807.5:c.698C>A NP_073718.1:p.Pro233Gln missense NM_022808.5:c.698C>A NP_073719.1:p.Pro233Gln missense NR_146177.1:n.1600C>A non-coding transcript variant NC_000015.10:g.24978419C>A NC_000015.9:g.25223566C>A NG_012958.1:g.159773C>A NG_042862.1:g.1426C>A - Protein change
- P233Q, P145Q, P225Q, P237Q
- Other names
- -
- Canonical SPDI
- NC_000015.10:24978418:C:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- 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 |
- | 372 |
| SNRPN | No evidence available | No evidence available |
GRCh38 GRCh37 |
3 | 403 | |
| SNHG14 | - | - | GRCh38 | 4 | 1139 | |
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
|
Feb 15, 2023 | RCV004272805.1 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Feb 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003905216.2
First in ClinVar: Apr 15, 2023 Last updated: May 01, 2024 |
Comment:
The c.698C>A (p.P233Q) alteration is located in exon 13 (coding exon 7) of the SNRPN gene. This alteration results from a C to A substitution … (more)
The c.698C>A (p.P233Q) alteration is located in exon 13 (coding exon 7) of the SNRPN gene. This alteration results from a C to A substitution at nucleotide position 698, causing the proline (P) at amino acid position 233 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (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:
The c.698C>A (p.P233Q) alteration is located in exon 13 (coding exon 7) of the SNRPN gene. This alteration results from a C to A substitution at nucleotide position 698, causing the proline (P) at amino acid position 233 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
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 Jan 04, 2025
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.