ClinVar Genomic variation as it relates to human health
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
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_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
Variation ID: 931533 Accession: VCV000931533.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 6q14.3 6: 85543271 (GRCh38) [ NCBI UCSC ] 6: 86252989 (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 Jul 4, 2020 Jan 21, 2023 Sep 24, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_153816.6:c.1300C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_722523.1:p.Gln434Ter nonsense NM_001297614.3:c.1300C>T NP_001284543.1:p.Gln434Ter nonsense NM_001304479.2:c.1144C>T NP_001291408.1:p.Gln382Ter nonsense NM_001350532.2:c.1363C>T NP_001337461.1:p.Gln455Ter nonsense NM_001350533.2:c.1297C>T NP_001337462.1:p.Gln433Ter nonsense NM_001350534.2:c.1297C>T NP_001337463.1:p.Gln433Ter nonsense NM_001350535.2:c.1297C>T NP_001337464.1:p.Gln433Ter nonsense NM_001350536.2:c.1168C>T NP_001337465.1:p.Gln390Ter nonsense NM_001350537.2:c.1165C>T NP_001337466.1:p.Gln389Ter nonsense NM_001350538.2:c.1156C>T NP_001337467.1:p.Gln386Ter nonsense NM_001350539.2:c.1141C>T NP_001337468.1:p.Gln381Ter nonsense NM_001350540.2:c.1300C>T NP_001337469.1:p.Gln434Ter nonsense NM_001350541.2:c.1300C>T NP_001337470.1:p.Gln434Ter nonsense NM_001350542.2:c.1012C>T NP_001337471.1:p.Gln338Ter nonsense NM_001350543.2:c.1009C>T NP_001337472.1:p.Gln337Ter nonsense NM_001350544.2:c.1000C>T NP_001337473.1:p.Gln334Ter nonsense NM_001350545.2:c.856C>T NP_001337474.1:p.Gln286Ter nonsense NM_001350546.2:c.856C>T NP_001337475.1:p.Gln286Ter nonsense NM_001350547.2:c.250C>T NP_001337476.1:p.Gln84Ter nonsense NM_001350548.2:c.145C>T NP_001337477.1:p.Gln49Ter nonsense NM_001350549.2:c.145C>T NP_001337478.1:p.Gln49Ter nonsense NM_001350550.2:c.145C>T NP_001337479.1:p.Gln49Ter nonsense NM_001350551.2:c.145C>T NP_001337480.1:p.Gln49Ter nonsense NM_001350552.2:c.145C>T NP_001337481.1:p.Gln49Ter nonsense NM_001350553.2:c.145C>T NP_001337482.1:p.Gln49Ter nonsense NM_020468.6:c.1168C>T NP_065201.1:p.Gln390Ter nonsense NR_146774.2:n.1182C>T non-coding transcript variant NR_146775.2:n.1185C>T non-coding transcript variant NR_146776.2:n.1308C>T non-coding transcript variant NR_146777.2:n.1436C>T non-coding transcript variant NR_146778.2:n.1440C>T non-coding transcript variant NR_146779.2:n.1437C>T non-coding transcript variant NC_000006.12:g.85543271G>A NC_000006.11:g.86252989G>A NG_047171.1:g.55886C>T - Protein change
- Q334*, Q338*, Q382*, Q455*, Q286*, Q337*, Q390*, Q381*, Q389*, Q84*, Q386*, Q433*, Q434*, Q49*
- Other names
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- Canonical SPDI
- NC_000006.12:85543270:G:A
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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
Help
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
Help
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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SNX14 | - | - |
GRCh38 GRCh37 |
267 | 289 |
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
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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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Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Sep 24, 2019 | RCV001198150.4 |
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
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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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Likely pathogenic
(Sep 24, 2019)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive spinocerebellar ataxia 20
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001368993.2
First in ClinVar: Jul 04, 2020 Last updated: Jul 04, 2020 |
Comment:
This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
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Likely pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive spinocerebellar ataxia 20
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV002820113.1
First in ClinVar: Jan 21, 2023 Last updated: Jan 21, 2023 |
Comment:
The stop gained p.Q434* in SNX14 (NM_153816.6) has been reported to ClinVar as Likely Pathogenic, but no details are available for independent assesment. The variant … (more)
The stop gained p.Q434* in SNX14 (NM_153816.6) has been reported to ClinVar as Likely Pathogenic, but no details are available for independent assesment. The variant has not been reported in affected individuals. The p.Q434* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been reported previously to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. (less)
Clinical Features:
Global developmental delay (present) , Motor stereotypies (present) , Delayed ability to roll over (present)
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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
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 rs1784370895 ...
HelpRecord last updated Apr 06, 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.