ClinVar Genomic variation as it relates to human health
NM_004318.4(ASPH):c.1680G>A (p.Trp560Ter)
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_004318.4(ASPH):c.1680G>A (p.Trp560Ter)
Variation ID: 3065095 Accession: VCV003065095.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q12.3 8: 61548155 (GRCh38) [ NCBI UCSC ] 8: 62460714 (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 Apr 6, 2024 Apr 6, 2024 Mar 26, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_004318.4:c.1680G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004309.2:p.Trp560Ter nonsense NM_001164750.2:c.1593G>A NP_001158222.1:p.Trp531Ter nonsense NM_001413844.1:c.1680G>A NP_001400773.1:p.Trp560Ter nonsense NM_001413845.1:c.1725G>A NP_001400774.1:p.Trp575Ter nonsense NM_001413846.1:c.1722G>A NP_001400775.1:p.Trp574Ter nonsense NM_001413847.1:c.1623G>A NP_001400776.1:p.Trp541Ter nonsense NM_001413848.1:c.1683G>A NP_001400777.1:p.Trp561Ter nonsense NM_001413849.1:c.1680G>A NP_001400778.1:p.Trp560Ter nonsense NM_001413850.1:c.1677G>A NP_001400779.1:p.Trp559Ter nonsense NM_001413851.1:c.1677G>A NP_001400780.1:p.Trp559Ter nonsense NM_001413852.1:c.1668G>A NP_001400781.1:p.Trp556Ter nonsense NM_001413853.1:c.1665G>A NP_001400782.1:p.Trp555Ter nonsense NM_001413854.1:c.1638G>A NP_001400783.1:p.Trp546Ter nonsense NM_001413855.1:c.1638G>A NP_001400784.1:p.Trp546Ter nonsense NM_001413856.1:c.1638G>A NP_001400785.1:p.Trp546Ter nonsense NM_001413857.1:c.1635G>A NP_001400786.1:p.Trp545Ter nonsense NM_001413858.1:c.1632G>A NP_001400787.1:p.Trp544Ter nonsense NM_001413859.1:c.1551G>A NP_001400788.1:p.Trp517Ter nonsense NM_001413860.1:c.1623G>A NP_001400789.1:p.Trp541Ter nonsense NM_001413861.1:c.1620G>A NP_001400790.1:p.Trp540Ter nonsense NM_001413862.1:c.1605G>A NP_001400791.1:p.Trp535Ter nonsense NM_001413863.1:c.1596G>A NP_001400792.1:p.Trp532Ter nonsense NM_001413864.1:c.1593G>A NP_001400793.1:p.Trp531Ter nonsense NM_001413865.1:c.1593G>A NP_001400794.1:p.Trp531Ter nonsense NM_001413866.1:c.1593G>A NP_001400795.1:p.Trp531Ter nonsense NM_001413867.1:c.1581G>A NP_001400796.1:p.Trp527Ter nonsense NM_001413868.1:c.1581G>A NP_001400797.1:p.Trp527Ter nonsense NM_001413869.1:c.1578G>A NP_001400798.1:p.Trp526Ter nonsense NM_001413870.1:c.1575G>A NP_001400799.1:p.Trp525Ter nonsense NM_001413871.1:c.1551G>A NP_001400800.1:p.Trp517Ter nonsense NM_001413872.1:c.1551G>A NP_001400801.1:p.Trp517Ter nonsense NM_001413873.1:c.1548G>A NP_001400802.1:p.Trp516Ter nonsense NM_001413874.1:c.1539G>A NP_001400803.1:p.Trp513Ter nonsense NM_001413875.1:c.1536G>A NP_001400804.1:p.Trp512Ter nonsense NM_001413876.1:c.1509G>A NP_001400805.1:p.Trp503Ter nonsense NM_001413877.1:c.1509G>A NP_001400806.1:p.Trp503Ter nonsense NM_001413878.1:c.1506G>A NP_001400807.1:p.Trp502Ter nonsense NM_001413879.1:c.1503G>A NP_001400808.1:p.Trp501Ter nonsense NM_001413880.1:c.1494G>A NP_001400809.1:p.Trp498Ter nonsense NM_001413881.1:c.1494G>A NP_001400810.1:p.Trp498Ter nonsense NM_001413882.1:c.1491G>A NP_001400811.1:p.Trp497Ter nonsense NM_001413883.1:c.1476G>A NP_001400812.1:p.Trp492Ter nonsense NM_001413884.1:c.1473G>A NP_001400813.1:p.Trp491Ter nonsense NM_001413885.1:c.1464G>A NP_001400814.1:p.Trp488Ter nonsense NM_001413886.1:c.1452G>A NP_001400815.1:p.Trp484Ter nonsense NM_001413887.1:c.1452G>A NP_001400816.1:p.Trp484Ter nonsense NM_001413888.1:c.1449G>A NP_001400817.1:p.Trp483Ter nonsense NM_001413889.1:c.1437G>A NP_001400818.1:p.Trp479Ter nonsense NM_001413890.1:c.1431G>A NP_001400819.1:p.Trp477Ter nonsense NM_001413891.1:c.1680G>A NP_001400820.1:p.Trp560Ter nonsense NM_001413893.1:c.1677G>A NP_001400822.1:p.Trp559Ter nonsense NM_001413894.1:c.1419G>A NP_001400823.1:p.Trp473Ter nonsense NM_001413895.1:c.1374G>A NP_001400824.1:p.Trp458Ter nonsense NM_001413896.1:c.1623G>A NP_001400825.1:p.Trp541Ter nonsense NM_001413897.1:c.1551G>A NP_001400826.1:p.Trp517Ter nonsense NM_001413898.1:c.1281G>A NP_001400827.1:p.Trp427Ter nonsense NM_001413899.1:c.1203G>A NP_001400828.1:p.Trp401Ter nonsense NM_001413900.1:c.1194G>A NP_001400829.1:p.Trp398Ter nonsense NM_001413901.1:c.1026G>A NP_001400830.1:p.Trp342Ter nonsense NM_001413909.1:c.1068G>A NP_001400838.1:p.Trp356Ter nonsense NC_000008.11:g.61548155C>T NC_000008.10:g.62460714C>T NG_013210.1:g.171486G>A - Protein change
- W342*, W356*, W398*, W401*, W427*, W458*, W473*, W477*, W479*, W483*, W484*, W488*, W491*, W492*, W497*, W498*, W501*, W502*, W503*, W512*, W513*, W516*, W517*, W525*, W526*, W527*, W531*, W532*, W535*, W540*, W541*, W544*, W545*, W546*, W555*, W556*, W559*, W560*, W561*, W574*, W575*
- Other names
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- Canonical SPDI
- NC_000008.11:61548154: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
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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
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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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ASPH | - | - |
GRCh38 GRCh37 |
169 | 211 |
Conditions - Germline
Condition
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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 (1) |
criteria provided, single submitter
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Mar 26, 2024 | RCV003990172.1 |
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
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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
(Mar 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004806542.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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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 this variant ...
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.