The c.3191G>A (p.R1064H) alteration is located in exon 9 (coding exon 9) of the SYTL2 gene. This alteration results from a G to A substitution at nucleotide position 3191, causing the arginine (R) at amino acid position 1064 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_206927.4(SYTL2):c.6092G>A (p.Arg2031His)
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_206927.4(SYTL2):c.6092G>A (p.Arg2031His)
Variation ID: 3324078 Accession: VCV003324078.1
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 11q14.1 11: 85704955 (GRCh38) [ NCBI UCSC ] 11: 85415998 (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 Aug 11, 2024 Aug 11, 2024 Jun 17, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_206927.4:c.6092G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_996810.2:p.Arg2031His missense NM_001162951.4:c.2177G>A NP_001156423.1:p.Arg726His missense NM_001162952.3:c.383G>A NP_001156424.1:p.Arg128His missense NM_001162953.4:c.2180G>A NP_001156425.1:p.Arg727His missense NM_001289608.2:c.2081G>A NP_001276537.1:p.Arg694His missense NM_001289609.2:c.140G>A NP_001276538.1:p.Arg47His missense NM_001289610.2:c.383G>A NP_001276539.1:p.Arg128His missense NM_001365826.2:c.2108G>A NP_001352755.1:p.Arg703His missense NM_001365827.2:c.1961G>A NP_001352756.1:p.Arg654His missense NM_001365828.2:c.503G>A NP_001352757.1:p.Arg168His missense NM_001365829.2:c.503G>A NP_001352758.1:p.Arg168His missense NM_001365830.2:c.503G>A NP_001352759.1:p.Arg168His missense NM_001365831.2:c.350G>A NP_001352760.1:p.Arg117His missense NM_001365832.2:c.276+2474G>A intron variant NM_001365833.2:c.470G>A NP_001352762.1:p.Arg157His missense NM_001365834.2:c.396+2474G>A intron variant NM_001365835.2:c.662G>A NP_001352764.1:p.Arg221His missense NM_001394447.1:c.6089G>A NP_001381376.1:p.Arg2030His missense NM_001394448.1:c.6044G>A NP_001381377.1:p.Arg2015His missense NM_001394449.1:c.6044G>A NP_001381378.1:p.Arg2015His missense NM_001394450.1:c.5963G>A NP_001381379.1:p.Arg1988His missense NM_001394451.1:c.5960G>A NP_001381380.1:p.Arg1987His missense NM_001394452.1:c.5578-4362G>A intron variant NM_001394453.1:c.2228G>A NP_001381382.1:p.Arg743His missense NM_001394454.1:c.2228G>A NP_001381383.1:p.Arg743His missense NM_001394455.1:c.2225G>A NP_001381384.1:p.Arg742His missense NM_001394456.1:c.2225G>A NP_001381385.1:p.Arg742His missense NM_001394457.1:c.2177G>A NP_001381386.1:p.Arg726His missense NM_001394458.1:c.2177G>A NP_001381387.1:p.Arg726His missense NM_001394459.1:c.2177G>A NP_001381388.1:p.Arg726His missense NM_001394460.1:c.2147G>A NP_001381389.1:p.Arg716His missense NM_001394461.1:c.2144G>A NP_001381390.1:p.Arg715His missense NM_001394462.1:c.2099G>A NP_001381391.1:p.Arg700His missense NM_001394464.1:c.2096G>A NP_001381393.1:p.Arg699His missense NM_001394465.1:c.2151+2474G>A intron variant NM_001394466.1:c.2033G>A NP_001381395.1:p.Arg678His missense NM_001394467.1:c.2027G>A NP_001381396.1:p.Arg676His missense NM_001394468.1:c.2024G>A NP_001381397.1:p.Arg675His missense NM_001394469.1:c.2003G>A NP_001381398.1:p.Arg668His missense NM_001394470.1:c.1982G>A NP_001381399.1:p.Arg661His missense NM_001394471.1:c.2025+2474G>A intron variant NM_001394472.1:c.2025+2474G>A intron variant NM_001394473.1:c.6011G>A NP_001381402.1:p.Arg2004His missense NM_032943.5:c.2105G>A NP_116561.1:p.Arg702His missense NM_206928.4:c.6041G>A NP_996811.2:p.Arg2014His missense NM_206929.4:c.503G>A NP_996812.1:p.Arg168His missense NM_206930.4:c.470G>A NP_996813.1:p.Arg157His missense NC_000011.10:g.85704955C>T NC_000011.9:g.85415998C>T NG_029712.2:g.111181G>A NG_029712.3:g.154915G>A - Protein change
- R128H, R1987H, R2004H, R221H, R661H, R716H, R727H, R742H, R117H, R1988H, R2014H, R2015H, R676H, R700H, R702H, R157H, R168H, R2030H, R2031H, R654H, R678H, R715H, R726H, R47H, R668H, R675H, R694H, R699H, R703H, R743H
- Other names
- -
- Canonical SPDI
- NC_000011.10:85704954:C:T
-
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. |
|||
| SYTL2 | - | - |
GRCh38 GRCh37 |
142 | 172 | |
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 17, 2024 | RCV004681879.1 |
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
(Jun 17, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV005165484.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.3191G>A (p.R1064H) alteration is located in exon 9 (coding exon 9) of the SYTL2 gene. This alteration results from a G to A substitution … (more)
The c.3191G>A (p.R1064H) alteration is located in exon 9 (coding exon 9) of the SYTL2 gene. This alteration results from a G to A substitution at nucleotide position 3191, causing the arginine (R) at amino acid position 1064 to be replaced by a histidine (H). 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.3191G>A (p.R1064H) alteration is located in exon 9 (coding exon 9) of the SYTL2 gene. This alteration results from a G to A substitution at nucleotide position 3191, causing the arginine (R) at amino acid position 1064 to be replaced by a histidine (H). 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 Aug 11, 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.