ClinVar Genomic variation as it relates to human health
NM_198252.3(GSN):c.479A>G (p.Asn160Ser)
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
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NM_198252.3(GSN):c.479A>G (p.Asn160Ser)
Variation ID: 2975621 Accession: VCV002975621.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 9q33.2 9: 121310811 (GRCh38) [ NCBI UCSC ] 9: 124073089 (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 29, 2024 Feb 28, 2024 Aug 27, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_198252.3:c.479A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_937895.1:p.Asn160Ser missense NM_000177.5:c.632A>G NP_000168.1:p.Asn211Ser missense NM_001127662.2:c.479A>G NP_001121134.1:p.Asn160Ser missense NM_001127663.2:c.587A>G NP_001121135.2:p.Asn196Ser missense NM_001127664.2:c.479A>G NP_001121136.1:p.Asn160Ser missense NM_001127665.2:c.479A>G NP_001121137.1:p.Asn160Ser missense NM_001127666.2:c.512A>G NP_001121138.1:p.Asn171Ser missense NM_001127667.2:c.512A>G NP_001121139.1:p.Asn171Ser missense NM_001258029.2:c.530A>G NP_001244958.1:p.Asn177Ser missense NM_001258030.2:c.503A>G NP_001244959.1:p.Asn168Ser missense NM_001353053.1:c.479A>G NP_001339982.1:p.Asn160Ser missense NM_001353054.1:c.479A>G NP_001339983.1:p.Asn160Ser missense NM_001353055.2:c.479A>G NP_001339984.1:p.Asn160Ser missense NM_001353056.2:c.479A>G NP_001339985.1:p.Asn160Ser missense NM_001353057.2:c.479A>G NP_001339986.1:p.Asn160Ser missense NM_001353058.2:c.479A>G NP_001339987.1:p.Asn160Ser missense NM_001353059.2:c.479A>G NP_001339988.1:p.Asn160Ser missense NM_001353060.2:c.479A>G NP_001339989.1:p.Asn160Ser missense NM_001353061.2:c.479A>G NP_001339990.1:p.Asn160Ser missense NM_001353062.1:c.479A>G NP_001339991.1:p.Asn160Ser missense NM_001353063.2:c.512A>G NP_001339992.1:p.Asn171Ser missense NM_001353064.2:c.512A>G NP_001339993.1:p.Asn171Ser missense NM_001353065.2:c.512A>G NP_001339994.1:p.Asn171Ser missense NM_001353066.2:c.512A>G NP_001339995.1:p.Asn171Ser missense NM_001353067.2:c.512A>G NP_001339996.1:p.Asn171Ser missense NM_001353068.2:c.512A>G NP_001339997.1:p.Asn171Ser missense NM_001353069.2:c.512A>G NP_001339998.1:p.Asn171Ser missense NM_001353070.2:c.512A>G NP_001339999.1:p.Asn171Ser missense NM_001353071.2:c.512A>G NP_001340000.1:p.Asn171Ser missense NM_001353072.2:c.512A>G NP_001340001.1:p.Asn171Ser missense NM_001353073.2:c.512A>G NP_001340002.1:p.Asn171Ser missense NM_001353074.2:c.512A>G NP_001340003.1:p.Asn171Ser missense NM_001353075.1:c.512A>G NP_001340004.1:p.Asn171Ser missense NM_001353076.2:c.551A>G NP_001340005.1:p.Asn184Ser missense NM_001353077.1:c.512A>G NP_001340006.1:p.Asn171Ser missense NM_001353078.2:c.-176A>G 5 prime UTR NC_000009.12:g.121310811A>G NC_000009.11:g.124073089A>G NG_012872.2:g.114730A>G - Protein change
- N160S, N196S, N171S, N211S, N177S, N168S, N184S
- Other names
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- Canonical SPDI
- NC_000009.12:121310810: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
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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
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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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GSN | - | - |
GRCh38 GRCh37 |
716 | 751 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Aug 27, 2023 | RCV003833707.1 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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
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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
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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
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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
(Aug 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV004634811.1
First in ClinVar: Feb 28, 2024 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 211 of the GSN protein (p.Asn211Ser). … (more)
This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 211 of the GSN protein (p.Asn211Ser). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GSN-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GSN protein function. This variant disrupts the p.Asn211 amino acid residue in GSN. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24601799, 27633054, 28139293). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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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
HelpTitle | Author | Journal | Year | Link |
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Clinical, biopsy, and mass spectrometry findings of renal gelsolin amyloidosis. | Sethi S | Kidney international | 2017 | PMID: 28139293 |
Molecular basis of a novel renal amyloidosis due to N184K gelsolin variant. | Bonì F | Scientific reports | 2016 | PMID: 27633054 |
Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred. | Efebera YA | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2014 | PMID: 24601799 |
Text-mined citations for this variant ...
HelpRecord last updated Mar 05, 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.