The c.2134T>C (p.S712P) alteration is located in exon 23 (coding exon 22) of the SNAP91 gene. This alteration results from a T to C substitution at nucleotide position 2134, causing the serine (S) at amino acid position 712 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001242792.2(SNAP91):c.2134T>C (p.Ser712Pro)
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)
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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
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NM_001242792.2(SNAP91):c.2134T>C (p.Ser712Pro)
Variation ID: 2402520 Accession: VCV002402520.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 6q14.2 6: 83582237 (GRCh38) [ NCBI UCSC ] 6: 84291956 (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 Feb 8, 2023 May 1, 2024 Oct 18, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001242792.2:c.2134T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001229721.1:p.Ser712Pro missense NM_001242793.2:c.2044T>C NP_001229722.1:p.Ser682Pro missense NM_001242794.2:c.1213T>C NP_001229723.1:p.Ser405Pro missense NM_001256717.2:c.1861T>C NP_001243646.1:p.Ser621Pro missense NM_001256718.2:c.1777T>C NP_001243647.1:p.Ser593Pro missense NM_001363677.2:c.2134T>C NP_001350606.1:p.Ser712Pro missense NM_001376675.1:c.2128T>C NP_001363604.1:p.Ser710Pro missense NM_001376676.1:c.2128T>C NP_001363605.1:p.Ser710Pro missense NM_001376677.1:c.2128T>C NP_001363606.1:p.Ser710Pro missense NM_001376678.1:c.2128T>C NP_001363607.1:p.Ser710Pro missense NM_001376679.1:c.2128T>C NP_001363608.1:p.Ser710Pro missense NM_001376680.1:c.2128T>C NP_001363609.1:p.Ser710Pro missense NM_001376681.1:c.2128T>C NP_001363610.1:p.Ser710Pro missense NM_001376682.1:c.2128T>C NP_001363611.1:p.Ser710Pro missense NM_001376683.1:c.2125T>C NP_001363612.1:p.Ser709Pro missense NM_001376684.1:c.2125T>C NP_001363613.1:p.Ser709Pro missense NM_001376685.1:c.2128T>C NP_001363614.1:p.Ser710Pro missense NM_001376686.1:c.2128T>C NP_001363615.1:p.Ser710Pro missense NM_001376687.1:c.2113T>C NP_001363616.1:p.Ser705Pro missense NM_001376688.1:c.2128T>C NP_001363617.1:p.Ser710Pro missense NM_001376689.1:c.2128T>C NP_001363618.1:p.Ser710Pro missense NM_001376690.1:c.2128T>C NP_001363619.1:p.Ser710Pro missense NM_001376691.1:c.2128T>C NP_001363620.1:p.Ser710Pro missense NM_001376692.1:c.2128T>C NP_001363621.1:p.Ser710Pro missense NM_001376693.1:c.2107T>C NP_001363622.1:p.Ser703Pro missense NM_001376694.1:c.2104T>C NP_001363623.1:p.Ser702Pro missense NM_001376695.1:c.2086T>C NP_001363624.1:p.Ser696Pro missense NM_001376696.1:c.2086T>C NP_001363625.1:p.Ser696Pro missense NM_001376697.1:c.2086T>C NP_001363626.1:p.Ser696Pro missense NM_001376698.1:c.2086T>C NP_001363627.1:p.Ser696Pro missense NM_001376699.1:c.2128T>C NP_001363628.1:p.Ser710Pro missense NM_001376700.1:c.2128T>C NP_001363629.1:p.Ser710Pro missense NM_001376701.1:c.2086T>C NP_001363630.1:p.Ser696Pro missense NM_001376702.1:c.2050T>C NP_001363631.1:p.Ser684Pro missense NM_001376703.1:c.2050T>C NP_001363632.1:p.Ser684Pro missense NM_001376704.1:c.2050T>C NP_001363633.1:p.Ser684Pro missense NM_001376705.1:c.2050T>C NP_001363634.1:p.Ser684Pro missense NM_001376706.1:c.2050T>C NP_001363635.1:p.Ser684Pro missense NM_001376707.1:c.2050T>C NP_001363636.1:p.Ser684Pro missense NM_001376708.1:c.2044T>C NP_001363637.1:p.Ser682Pro missense NM_001376709.1:c.2044T>C NP_001363638.1:p.Ser682Pro missense NM_001376710.1:c.2044T>C NP_001363639.1:p.Ser682Pro missense NM_001376711.1:c.2044T>C NP_001363640.1:p.Ser682Pro missense NM_001376712.1:c.2113T>C NP_001363641.1:p.Ser705Pro missense NM_001376713.1:c.2050T>C NP_001363642.1:p.Ser684Pro missense NM_001376714.1:c.2050T>C NP_001363643.1:p.Ser684Pro missense NM_001376715.1:c.2035T>C NP_001363644.1:p.Ser679Pro missense NM_001376716.1:c.2008T>C NP_001363645.1:p.Ser670Pro missense NM_001376717.1:c.2008T>C NP_001363646.1:p.Ser670Pro missense NM_001376718.1:c.1978T>C NP_001363647.1:p.Ser660Pro missense NM_001376719.1:c.1966T>C NP_001363648.1:p.Ser656Pro missense NM_001376720.1:c.1954T>C NP_001363649.1:p.Ser652Pro missense NM_001376721.1:c.1954T>C NP_001363650.1:p.Ser652Pro missense NM_001376723.1:c.1954T>C NP_001363652.1:p.Ser652Pro missense NM_001376726.1:c.1954T>C NP_001363655.1:p.Ser652Pro missense NM_001376728.1:c.1954T>C NP_001363657.1:p.Ser652Pro missense NM_001376731.1:c.1966T>C NP_001363660.1:p.Ser656Pro missense NM_001376733.1:c.1945T>C NP_001363662.1:p.Ser649Pro missense NM_001376734.1:c.1945T>C NP_001363663.1:p.Ser649Pro missense NM_001376735.1:c.1954T>C NP_001363664.1:p.Ser652Pro missense NM_001376736.1:c.1924T>C NP_001363665.1:p.Ser642Pro missense NM_001376737.1:c.1945T>C NP_001363666.1:p.Ser649Pro missense NM_001376738.1:c.1423T>C NP_001363667.1:p.Ser475Pro missense NM_001376739.1:c.1381T>C NP_001363668.1:p.Ser461Pro missense NM_001376740.1:c.1423T>C NP_001363669.1:p.Ser475Pro missense NM_014841.3:c.2134T>C NP_055656.1:p.Ser712Pro missense NR_164843.1:n.2266T>C non-coding transcript variant NR_164844.1:n.2151T>C non-coding transcript variant NR_164845.1:n.2415T>C non-coding transcript variant NR_164846.1:n.2232T>C non-coding transcript variant NC_000006.12:g.83582237A>G NC_000006.11:g.84291956A>G - Protein change
- S405P, S475P, S696P, S702P, S703P, S712P, S461P, S652P, S684P, S593P, S660P, S670P, S679P, S705P, S709P, S710P, S621P, S642P, S649P, S656P, S682P
- Other names
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- Canonical SPDI
- NC_000006.12:83582236:A:G
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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. |
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| SNAP91 | - | - |
GRCh38 GRCh37 |
63 | 90 | |
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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Oct 18, 2021 | RCV004234456.1 |
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. |
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Uncertain significance
(Oct 18, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003746227.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.2134T>C (p.S712P) alteration is located in exon 23 (coding exon 22) of the SNAP91 gene. This alteration results from a T to C substitution … (more)
The c.2134T>C (p.S712P) alteration is located in exon 23 (coding exon 22) of the SNAP91 gene. This alteration results from a T to C substitution at nucleotide position 2134, causing the serine (S) at amino acid position 712 to be replaced by a proline (P). 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.2134T>C (p.S712P) alteration is located in exon 23 (coding exon 22) of the SNAP91 gene. This alteration results from a T to C substitution at nucleotide position 2134, causing the serine (S) at amino acid position 712 to be replaced by a proline (P). 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 Nov 25, 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.