ClinVar Genomic variation as it relates to human health
NM_001348323.3(TRIP12):c.1510C>T (p.Gln504Ter)
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_001348323.3(TRIP12):c.1510C>T (p.Gln504Ter)
Variation ID: 2505074 Accession: VCV002505074.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q36.3 2: 229818453 (GRCh38) [ NCBI UCSC ] 2: 230683169 (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 Jun 17, 2023 Jun 17, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001348323.3:c.1510C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001335252.1:p.Gln504Ter nonsense NM_001284214.2:c.1510C>T NP_001271143.1:p.Gln504Ter nonsense NM_001284215.2:c.1384C>T NP_001271144.1:p.Gln462Ter nonsense NM_001284216.2:c.475C>T NP_001271145.1:p.Gln159Ter nonsense NM_001348315.2:c.1510C>T NP_001335244.1:p.Gln504Ter nonsense NM_001348316.2:c.1384C>T NP_001335245.1:p.Gln462Ter nonsense NM_001348317.1:c.1384C>T NP_001335246.1:p.Gln462Ter nonsense NM_001348318.2:c.1384C>T NP_001335247.1:p.Gln462Ter nonsense NM_001348319.1:c.1510C>T NP_001335248.1:p.Gln504Ter nonsense NM_001348320.2:c.1510C>T NP_001335249.1:p.Gln504Ter nonsense NM_001348321.1:c.1510C>T NP_001335250.1:p.Gln504Ter nonsense NM_001348322.1:c.1510C>T NP_001335251.1:p.Gln504Ter nonsense NM_001348324.2:c.1510C>T NP_001335253.1:p.Gln504Ter nonsense NM_001348325.2:c.1510C>T NP_001335254.1:p.Gln504Ter nonsense NM_001348326.2:c.1510C>T NP_001335255.1:p.Gln504Ter nonsense NM_001348327.2:c.1510C>T NP_001335256.1:p.Gln504Ter nonsense NM_001348328.1:c.1510C>T NP_001335257.1:p.Gln504Ter nonsense NM_001348329.2:c.1510C>T NP_001335258.1:p.Gln504Ter nonsense NM_001348330.2:c.1510C>T NP_001335259.1:p.Gln504Ter nonsense NM_001348331.1:c.1384C>T NP_001335260.1:p.Gln462Ter nonsense NM_001348332.1:c.1423C>T NP_001335261.1:p.Gln475Ter nonsense NM_001348333.1:c.1510C>T NP_001335262.1:p.Gln504Ter nonsense NM_004238.3:c.1366C>T NP_004229.1:p.Gln456Ter nonsense NC_000002.12:g.229818453G>A NC_000002.11:g.230683169G>A NG_053017.1:g.109782C>T - Protein change
- Q159*, Q456*, Q462*, Q475*, Q504*
- Other names
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- Canonical SPDI
- NC_000002.12:229818452: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
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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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TRIP12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
437 | 491 |
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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not provided (1) |
no classification provided
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- | RCV003233254.2 |
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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not provided
(-)
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no classification provided
Method: phenotyping only
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Clark-Baraitser syndrome
Affected status: yes
Allele origin:
de novo
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GenomeConnect - Brain Gene Registry
Accession: SCV003931166.1
First in ClinVar: Jun 17, 2023 Last updated: Jun 17, 2023 |
Comment:
Variant classified as Pathogenic and reported on 12-01-2022 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does … (more)
Variant classified as Pathogenic and reported on 12-01-2022 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. (less)
Clinical Features:
Abnormality of the amniotic fluid (present) , Abnormal delivery (present) , Short stature (present) , Decreased response to growth hormone stimulation test (present) , Cognitive … (more)
Abnormality of the amniotic fluid (present) , Abnormal delivery (present) , Short stature (present) , Decreased response to growth hormone stimulation test (present) , Cognitive impairment (present) , EEG abnormality (present) , Seizure (present) , Autistic behavior (present) , Short attention span (present) (less)
Indication for testing: Diagnostic
Age: 10-19 years
Sex: female
Method: Exome Sequencing
Testing laboratory: GeneDx
Date variant was reported to submitter: 2022-12-01
Testing laboratory interpretation: Pathogenic
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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 Jun 23, 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.