ClinVar Genomic variation as it relates to human health
NM_001242792.2(SNAP91):c.1429A>G (p.Asn477Asp)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001242792.2(SNAP91):c.1429A>G (p.Asn477Asp)
Variation ID: 2360108 Accession: VCV002360108.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 6q14.2 6: 83594377 (GRCh38) [ NCBI UCSC ] 6: 84304096 (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 Feb 8, 2023 May 1, 2024 Dec 1, 2022 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001242792.2:c.1429A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001229721.1:p.Asn477Asp missense NM_001242793.2:c.1423A>G NP_001229722.1:p.Asn475Asp missense NM_001242794.2:c.1093+11308A>G intron variant NM_001256717.2:c.1318A>G NP_001243646.1:p.Asn440Asp missense NM_001256718.2:c.1072A>G NP_001243647.1:p.Asn358Asp missense NM_001363677.2:c.1429A>G NP_001350606.1:p.Asn477Asp missense NM_001376675.1:c.1423A>G NP_001363604.1:p.Asn475Asp missense NM_001376676.1:c.1423A>G NP_001363605.1:p.Asn475Asp missense NM_001376677.1:c.1423A>G NP_001363606.1:p.Asn475Asp missense NM_001376678.1:c.1423A>G NP_001363607.1:p.Asn475Asp missense NM_001376679.1:c.1423A>G NP_001363608.1:p.Asn475Asp missense NM_001376680.1:c.1423A>G NP_001363609.1:p.Asn475Asp missense NM_001376681.1:c.1423A>G NP_001363610.1:p.Asn475Asp missense NM_001376682.1:c.1423A>G NP_001363611.1:p.Asn475Asp missense NM_001376683.1:c.1423A>G NP_001363612.1:p.Asn475Asp missense NM_001376684.1:c.1423A>G NP_001363613.1:p.Asn475Asp missense NM_001376685.1:c.1423A>G NP_001363614.1:p.Asn475Asp missense NM_001376686.1:c.1423A>G NP_001363615.1:p.Asn475Asp missense NM_001376687.1:c.1408A>G NP_001363616.1:p.Asn470Asp missense NM_001376688.1:c.1423A>G NP_001363617.1:p.Asn475Asp missense NM_001376689.1:c.1423A>G NP_001363618.1:p.Asn475Asp missense NM_001376690.1:c.1423A>G NP_001363619.1:p.Asn475Asp missense NM_001376691.1:c.1423A>G NP_001363620.1:p.Asn475Asp missense NM_001376692.1:c.1423A>G NP_001363621.1:p.Asn475Asp missense NM_001376693.1:c.1423A>G NP_001363622.1:p.Asn475Asp missense NM_001376694.1:c.1423A>G NP_001363623.1:p.Asn475Asp missense NM_001376695.1:c.1381A>G NP_001363624.1:p.Asn461Asp missense NM_001376696.1:c.1381A>G NP_001363625.1:p.Asn461Asp missense NM_001376697.1:c.1381A>G NP_001363626.1:p.Asn461Asp missense NM_001376698.1:c.1381A>G NP_001363627.1:p.Asn461Asp missense NM_001376699.1:c.1423A>G NP_001363628.1:p.Asn475Asp missense NM_001376700.1:c.1423A>G NP_001363629.1:p.Asn475Asp missense NM_001376701.1:c.1381A>G NP_001363630.1:p.Asn461Asp missense NM_001376702.1:c.1423A>G NP_001363631.1:p.Asn475Asp missense NM_001376703.1:c.1423A>G NP_001363632.1:p.Asn475Asp missense NM_001376704.1:c.1423A>G NP_001363633.1:p.Asn475Asp missense NM_001376705.1:c.1423A>G NP_001363634.1:p.Asn475Asp missense NM_001376706.1:c.1423A>G NP_001363635.1:p.Asn475Asp missense NM_001376707.1:c.1423A>G NP_001363636.1:p.Asn475Asp missense NM_001376708.1:c.1423A>G NP_001363637.1:p.Asn475Asp missense NM_001376709.1:c.1423A>G NP_001363638.1:p.Asn475Asp missense NM_001376710.1:c.1423A>G NP_001363639.1:p.Asn475Asp missense NM_001376711.1:c.1423A>G NP_001363640.1:p.Asn475Asp missense NM_001376712.1:c.1408A>G NP_001363641.1:p.Asn470Asp missense NM_001376713.1:c.1423A>G NP_001363642.1:p.Asn475Asp missense NM_001376714.1:c.1423A>G NP_001363643.1:p.Asn475Asp missense NM_001376715.1:c.1330A>G NP_001363644.1:p.Asn444Asp missense NM_001376716.1:c.1381A>G NP_001363645.1:p.Asn461Asp missense NM_001376717.1:c.1381A>G NP_001363646.1:p.Asn461Asp missense NM_001376718.1:c.1423A>G NP_001363647.1:p.Asn475Asp missense NM_001376719.1:c.1423A>G NP_001363648.1:p.Asn475Asp missense NM_001376720.1:c.1249A>G NP_001363649.1:p.Asn417Asp missense NM_001376721.1:c.1249A>G NP_001363650.1:p.Asn417Asp missense NM_001376723.1:c.1249A>G NP_001363652.1:p.Asn417Asp missense NM_001376726.1:c.1249A>G NP_001363655.1:p.Asn417Asp missense NM_001376728.1:c.1249A>G NP_001363657.1:p.Asn417Asp missense NM_001376731.1:c.1423A>G NP_001363660.1:p.Asn475Asp missense NM_001376733.1:c.1408A>G NP_001363662.1:p.Asn470Asp missense NM_001376734.1:c.1408A>G NP_001363663.1:p.Asn470Asp missense NM_001376735.1:c.1249A>G NP_001363664.1:p.Asn417Asp missense NM_001376736.1:c.1381A>G NP_001363665.1:p.Asn461Asp missense NM_001376737.1:c.1408A>G NP_001363666.1:p.Asn470Asp missense NM_001376738.1:c.1303+6894A>G intron variant NM_001376739.1:c.1261+6894A>G intron variant NM_001376740.1:c.1303+6894A>G intron variant NM_014841.3:c.1429A>G NP_055656.1:p.Asn477Asp missense NR_164843.1:n.1511A>G non-coding transcript variant NR_164844.1:n.1524A>G non-coding transcript variant NR_164845.1:n.1710A>G non-coding transcript variant NR_164846.1:n.1561A>G non-coding transcript variant NC_000006.12:g.83594377T>C NC_000006.11:g.84304096T>C - Protein change
- N440D, N444D, N470D, N417D, N461D, N475D, N477D, N358D
- Other names
- -
- Canonical SPDI
- NC_000006.12:83594376:T:C
-
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. |
|||
SNAP91 | - | - |
GRCh38 GRCh37 |
55 | 82 |
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
|
Dec 1, 2022 | RCV004200956.1 |
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
(Dec 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003698623.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.1429A>G (p.N477D) alteration is located in exon 17 (coding exon 16) of the SNAP91 gene. This alteration results from a A to G substitution … (more)
The c.1429A>G (p.N477D) alteration is located in exon 17 (coding exon 16) of the SNAP91 gene. This alteration results from a A to G substitution at nucleotide position 1429, causing the asparagine (N) at amino acid position 477 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
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
HelpThere 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 May 08, 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.