The c.2721T>G (p.D907E) alteration is located in exon 5 (coding exon 5) of the SYTL2 gene. This alteration results from a T to G substitution at nucleotide position 2721, causing the aspartic acid (D) at amino acid position 907 to be replaced by a glutamic acid (E). 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.5622T>G (p.Asp1874Glu)
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_206927.4(SYTL2):c.5622T>G (p.Asp1874Glu)
Variation ID: 2365442 Accession: VCV002365442.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q14.1 11: 85714416 (GRCh38) [ NCBI UCSC ] 11: 85425459 (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 Nov 30, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_206927.4:c.5622T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_996810.2:p.Asp1874Glu missense NM_001162951.4:c.1707T>G NP_001156423.1:p.Asp569Glu missense NM_001162952.3:c.33T>G NP_001156424.1:p.Asp11Glu missense NM_001162953.4:c.1710T>G NP_001156425.1:p.Asp570Glu missense NM_001289608.2:c.1611T>G NP_001276537.1:p.Asp537Glu missense NM_001289609.2:c.-324T>G 5 prime UTR NM_001289610.2:c.33T>G NP_001276539.1:p.Asp11Glu missense NM_001365826.2:c.1758T>G NP_001352755.1:p.Asp586Glu missense NM_001365827.2:c.1611T>G NP_001352756.1:p.Asp537Glu missense NM_001365828.2:c.33T>G NP_001352757.1:p.Asp11Glu missense NM_001365829.2:c.33T>G NP_001352758.1:p.Asp11Glu missense NM_001365830.2:c.33T>G NP_001352759.1:p.Asp11Glu missense NM_001365831.2:c.3+4374T>G intron variant NM_001365832.2:c.3+4374T>G intron variant NM_001365833.2:c.4-3184T>G intron variant NM_001365834.2:c.4-3184T>G intron variant NM_001365835.2:c.192T>G NP_001352764.1:p.Asp64Glu missense NM_001394447.1:c.5619T>G NP_001381376.1:p.Asp1873Glu missense NM_001394448.1:c.5574T>G NP_001381377.1:p.Asp1858Glu missense NM_001394449.1:c.5574T>G NP_001381378.1:p.Asp1858Glu missense NM_001394450.1:c.5493T>G NP_001381379.1:p.Asp1831Glu missense NM_001394451.1:c.5490T>G NP_001381380.1:p.Asp1830Glu missense NM_001394452.1:c.5574T>G NP_001381381.1:p.Asp1858Glu missense NM_001394453.1:c.1758T>G NP_001381382.1:p.Asp586Glu missense NM_001394454.1:c.1758T>G NP_001381383.1:p.Asp586Glu missense NM_001394455.1:c.1755T>G NP_001381384.1:p.Asp585Glu missense NM_001394456.1:c.1755T>G NP_001381385.1:p.Asp585Glu missense NM_001394457.1:c.1707T>G NP_001381386.1:p.Asp569Glu missense NM_001394458.1:c.1707T>G NP_001381387.1:p.Asp569Glu missense NM_001394459.1:c.1707T>G NP_001381388.1:p.Asp569Glu missense NM_001394460.1:c.1677T>G NP_001381389.1:p.Asp559Glu missense NM_001394461.1:c.1674T>G NP_001381390.1:p.Asp558Glu missense NM_001394462.1:c.1629T>G NP_001381391.1:p.Asp543Glu missense NM_001394464.1:c.1626T>G NP_001381393.1:p.Asp542Glu missense NM_001394465.1:c.1755T>G NP_001381394.1:p.Asp585Glu missense NM_001394466.1:c.1563T>G NP_001381395.1:p.Asp521Glu missense NM_001394467.1:c.1557T>G NP_001381396.1:p.Asp519Glu missense NM_001394468.1:c.1674T>G NP_001381397.1:p.Asp558Glu missense NM_001394469.1:c.1533T>G NP_001381398.1:p.Asp511Glu missense NM_001394470.1:c.1755T>G NP_001381399.1:p.Asp585Glu missense NM_001394471.1:c.1629T>G NP_001381400.1:p.Asp543Glu missense NM_001394472.1:c.1629T>G NP_001381401.1:p.Asp543Glu missense NM_001394473.1:c.5541T>G NP_001381402.1:p.Asp1847Glu missense NM_032943.5:c.1755T>G NP_116561.1:p.Asp585Glu missense NM_206928.4:c.5571T>G NP_996811.2:p.Asp1857Glu missense NM_206929.4:c.33T>G NP_996812.1:p.Asp11Glu missense NM_206930.4:c.4-3184T>G intron variant NC_000011.10:g.85714416A>C NC_000011.9:g.85425459A>C NG_029712.2:g.101720T>G NG_029712.3:g.145454T>G - Protein change
- D1830E, D1831E, D1874E, D542E, D559E, D585E, D1857E, D511E, D543E, D11E, D1858E, D519E, D558E, D569E, D570E, D586E, D1847E, D1873E, D521E, D537E, D64E
- Other names
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- Canonical SPDI
- NC_000011.10:85714415: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. |
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| 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
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Nov 30, 2022 | RCV004206697.1 |
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
(Nov 30, 2022)
|
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: SCV003710602.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.2721T>G (p.D907E) alteration is located in exon 5 (coding exon 5) of the SYTL2 gene. This alteration results from a T to G substitution … (more)
The c.2721T>G (p.D907E) alteration is located in exon 5 (coding exon 5) of the SYTL2 gene. This alteration results from a T to G substitution at nucleotide position 2721, causing the aspartic acid (D) at amino acid position 907 to be replaced by a glutamic acid (E). 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.2721T>G (p.D907E) alteration is located in exon 5 (coding exon 5) of the SYTL2 gene. This alteration results from a T to G substitution at nucleotide position 2721, causing the aspartic acid (D) at amino acid position 907 to be replaced by a glutamic acid (E). 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 19, 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.