ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.432del (p.Gln144fs)
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_000546.6(TP53):c.432del (p.Gln144fs)
Variation ID: 2687671 Accession: VCV002687671.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7675180 (GRCh38) [ NCBI UCSC ] 17: 7578498 (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 Jan 26, 2024 Jan 26, 2024 Jan 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.432del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Gln144fs frameshift NM_000546.6:c.432delG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
frameshift NM_001126112.3:c.432del NP_001119584.1:p.Gln144fs frameshift NM_001126113.3:c.432del NP_001119585.1:p.Gln144fs frameshift NM_001126114.3:c.432del NP_001119586.1:p.Gln144fs frameshift NM_001126115.2:c.36del NP_001119587.1:p.Gln12fs frameshift NM_001126116.2:c.36del NP_001119588.1:p.Gln12fs frameshift NM_001126117.2:c.36del NP_001119589.1:p.Gln12fs frameshift NM_001126118.2:c.315del NP_001119590.1:p.Gln105fs frameshift NM_001276695.3:c.315del NP_001263624.1:p.Gln105fs frameshift NM_001276696.3:c.315del NP_001263625.1:p.Gln105fs frameshift NM_001276697.3:c.-46del 5 prime UTR NM_001276698.3:c.-46del 5 prime UTR NM_001276699.3:c.-46del 5 prime UTR NM_001276760.3:c.315del NP_001263689.1:p.Gln105fs frameshift NM_001276761.3:c.315del NP_001263690.1:p.Gln105fs frameshift NM_001407262.1:c.432del NP_001394191.1:p.Gln144fs frameshift NM_001407263.1:c.315del NP_001394192.1:p.Gln105fs frameshift NM_001407264.1:c.432del NP_001394193.1:p.Gln144fs frameshift NM_001407265.1:c.315del NP_001394194.1:p.Gln105fs frameshift NM_001407266.1:c.432del NP_001394195.1:p.Gln144fs frameshift NM_001407267.1:c.315del NP_001394196.1:p.Gln105fs frameshift NM_001407268.1:c.432del NP_001394197.1:p.Gln144fs frameshift NM_001407269.1:c.315del NP_001394198.1:p.Gln105fs frameshift NM_001407270.1:c.432del NP_001394199.1:p.Gln144fs frameshift NM_001407271.1:c.315del NP_001394200.1:p.Gln105fs frameshift NR_176326.1:n.574del non-coding transcript variant NC_000017.11:g.7675180del NC_000017.10:g.7578498del NG_017013.2:g.17371del LRG_321:g.17371del LRG_321t1:c.432del LRG_321p1:p.Gln144Hisfs LRG_321t2:c.432del LRG_321:p.Gln144Hisfs LRG_321t3:c.432del LRG_321p3:p.Gln144Hisfs LRG_321t4:c.432del LRG_321p4:p.Gln144Hisfs LRG_321t5:c.36del LRG_321p5:p.Gln12Hisfs LRG_321t6:c.36del LRG_321p6:p.Gln12Hisfs LRG_321t7:c.36del LRG_321p7:p.Gln12Hisfs LRG_321t8:c.315del LRG_321p8:p.Gln105Hisfs - Protein change
- Q105fs, Q12fs, Q144fs
- Other names
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- Canonical SPDI
- NC_000017.11:7675179:C:
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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
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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TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3307 | 3402 |
Conditions - Germline
Condition
Help
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
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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Uncertain significance (1) |
no assertion criteria provided
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Jan 1, 2024 | RCV003484916.1 |
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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Uncertain significance
(Jan 01, 2024)
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no assertion criteria provided
Method: clinical testing
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Prostate cancer, hereditary, 1
Affected status: yes
Allele origin:
germline
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Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca
Accession: SCV004232095.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 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 Feb 04, 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.