The c.1507G>A (p.D503N) alteration is located in exon 14 (coding exon 8) of the ST18 gene. This alteration results from a G to A substitution at nucleotide position 1507, causing the aspartic acid (D) at amino acid position 503 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001352837.2(ST18):c.1507G>A (p.Asp503Asn)
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
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NM_001352837.2(ST18):c.1507G>A (p.Asp503Asn)
Variation ID: 3170605 Accession: VCV003170605.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q11.23 8: 52161462 (GRCh38) [ NCBI UCSC ] 8: 53074022 (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 May 1, 2024 May 1, 2024 Nov 29, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352837.2:c.1507G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339766.1:p.Asp503Asn missense NM_001352826.2:c.1507G>A NP_001339755.1:p.Asp503Asn missense NM_001352827.2:c.1507G>A NP_001339756.1:p.Asp503Asn missense NM_001352828.2:c.1507G>A NP_001339757.1:p.Asp503Asn missense NM_001352829.2:c.1507G>A NP_001339758.1:p.Asp503Asn missense NM_001352830.2:c.1507G>A NP_001339759.1:p.Asp503Asn missense NM_001352831.2:c.1507G>A NP_001339760.1:p.Asp503Asn missense NM_001352832.2:c.1507G>A NP_001339761.1:p.Asp503Asn missense NM_001352833.2:c.1507G>A NP_001339762.1:p.Asp503Asn missense NM_001352834.2:c.1507G>A NP_001339763.1:p.Asp503Asn missense NM_001352835.2:c.1507G>A NP_001339764.1:p.Asp503Asn missense NM_001352836.2:c.1507G>A NP_001339765.1:p.Asp503Asn missense NM_001352838.2:c.1507G>A NP_001339767.1:p.Asp503Asn missense NM_001352839.2:c.1507G>A NP_001339768.1:p.Asp503Asn missense NM_001352840.2:c.1507G>A NP_001339769.1:p.Asp503Asn missense NM_001352841.2:c.1507G>A NP_001339770.1:p.Asp503Asn missense NM_001352842.2:c.1507G>A NP_001339771.1:p.Asp503Asn missense NM_001352843.2:c.1507G>A NP_001339772.1:p.Asp503Asn missense NM_001352844.2:c.1507G>A NP_001339773.1:p.Asp503Asn missense NM_001352845.2:c.1507G>A NP_001339774.1:p.Asp503Asn missense NM_001352846.2:c.1507G>A NP_001339775.1:p.Asp503Asn missense NM_001352847.2:c.1507G>A NP_001339776.1:p.Asp503Asn missense NM_001352848.2:c.1507G>A NP_001339777.1:p.Asp503Asn missense NM_001352849.2:c.1507G>A NP_001339778.1:p.Asp503Asn missense NM_001352850.2:c.1507G>A NP_001339779.1:p.Asp503Asn missense NM_001352851.2:c.1507G>A NP_001339780.1:p.Asp503Asn missense NM_001352852.2:c.1507G>A NP_001339781.1:p.Asp503Asn missense NM_001352853.2:c.1507G>A NP_001339782.1:p.Asp503Asn missense NM_001352854.2:c.1507G>A NP_001339783.1:p.Asp503Asn missense NM_001352855.2:c.1507G>A NP_001339784.1:p.Asp503Asn missense NM_001352856.2:c.1507G>A NP_001339785.1:p.Asp503Asn missense NM_001352857.2:c.1507G>A NP_001339786.1:p.Asp503Asn missense NM_001352858.2:c.1420G>A NP_001339787.1:p.Asp474Asn missense NM_001352859.2:c.1420G>A NP_001339788.1:p.Asp474Asn missense NM_001352860.2:c.1420G>A NP_001339789.1:p.Asp474Asn missense NM_001352861.2:c.1402G>A NP_001339790.1:p.Asp468Asn missense NM_001352862.2:c.1402G>A NP_001339791.1:p.Asp468Asn missense NM_001352863.2:c.1402G>A NP_001339792.1:p.Asp468Asn missense NM_001352864.2:c.1402G>A NP_001339793.1:p.Asp468Asn missense NM_001352865.2:c.1402G>A NP_001339794.1:p.Asp468Asn missense NM_001352866.2:c.1402G>A NP_001339795.1:p.Asp468Asn missense NM_001352867.2:c.1402G>A NP_001339796.1:p.Asp468Asn missense NM_001352868.2:c.1402G>A NP_001339797.1:p.Asp468Asn missense NM_001352869.2:c.1402G>A NP_001339798.1:p.Asp468Asn missense NM_001352870.2:c.1507G>A NP_001339799.1:p.Asp503Asn missense NM_001352871.2:c.1507G>A NP_001339800.1:p.Asp503Asn missense NM_001352872.2:c.1507G>A NP_001339801.1:p.Asp503Asn missense NM_001352873.2:c.1507G>A NP_001339802.1:p.Asp503Asn missense NM_001352874.2:c.1507G>A NP_001339803.1:p.Asp503Asn missense NM_001352875.2:c.1507G>A NP_001339804.1:p.Asp503Asn missense NM_001352876.2:c.715G>A NP_001339805.1:p.Asp239Asn missense NM_001352877.2:c.448G>A NP_001339806.1:p.Asp150Asn missense NM_001352878.2:c.448G>A NP_001339807.1:p.Asp150Asn missense NM_014682.3:c.1507G>A NP_055497.1:p.Asp503Asn missense NC_000008.11:g.52161462C>T NC_000008.10:g.53074022C>T - Protein change
- D474N, D503N, D150N, D239N, D468N
- Other names
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- Canonical SPDI
- NC_000008.11:52161461:C:T
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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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| ST18 | - | - |
GRCh38 GRCh37 |
- | - | |
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 29, 2023 | RCV004463016.1 |
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 29, 2023)
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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: SCV004958433.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.1507G>A (p.D503N) alteration is located in exon 14 (coding exon 8) of the ST18 gene. This alteration results from a G to A substitution … (more)
The c.1507G>A (p.D503N) alteration is located in exon 14 (coding exon 8) of the ST18 gene. This alteration results from a G to A substitution at nucleotide position 1507, causing the aspartic acid (D) at amino acid position 503 to be replaced by an asparagine (N). 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.1507G>A (p.D503N) alteration is located in exon 14 (coding exon 8) of the ST18 gene. This alteration results from a G to A substitution at nucleotide position 1507, causing the aspartic acid (D) at amino acid position 503 to be replaced by an asparagine (N). 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 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.