ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.567_577del (p.Pro190fs)
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.567_577del (p.Pro190fs)
Variation ID: 2770131 Accession: VCV002770131.1
- Type and length
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Deletion, 11 bp
- Location
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Cytogenetic: 17p13.1 17: 7674954-7674964 (GRCh38) [ NCBI UCSC ] 17: 7578272-7578282 (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 14, 2024 Feb 14, 2024 Nov 6, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.567_577del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Pro190fs frameshift NM_001126112.3:c.567_577del NP_001119584.1:p.Pro190fs frameshift NM_001126113.3:c.567_577del NP_001119585.1:p.Pro190fs frameshift NM_001126114.3:c.567_577del NP_001119586.1:p.Pro190fs frameshift NM_001126115.2:c.171_181del NP_001119587.1:p.Pro58fs frameshift NM_001126116.2:c.171_181del NP_001119588.1:p.Pro58fs frameshift NM_001126117.2:c.171_181del NP_001119589.1:p.Pro58fs frameshift NM_001126118.2:c.450_460del NP_001119590.1:p.Pro151fs frameshift NM_001276695.3:c.450_460del NP_001263624.1:p.Pro151fs frameshift NM_001276696.3:c.450_460del NP_001263625.1:p.Pro151fs frameshift NM_001276697.3:c.90_100del NP_001263626.1:p.Pro31fs frameshift NM_001276698.3:c.90_100del NP_001263627.1:p.Pro31fs frameshift NM_001276699.3:c.90_100del NP_001263628.1:p.Pro31fs frameshift NM_001276760.3:c.450_460del NP_001263689.1:p.Pro151fs frameshift NM_001276761.3:c.450_460del NP_001263690.1:p.Pro151fs frameshift NM_001407262.1:c.567_577del NP_001394191.1:p.Pro190fs frameshift NM_001407263.1:c.450_460del NP_001394192.1:p.Pro151fs frameshift NM_001407264.1:c.567_577del NP_001394193.1:p.Pro190fs frameshift NM_001407265.1:c.450_460del NP_001394194.1:p.Pro151fs frameshift NM_001407266.1:c.567_577del NP_001394195.1:p.Pro190fs frameshift NM_001407267.1:c.450_460del NP_001394196.1:p.Pro151fs frameshift NM_001407268.1:c.567_577del NP_001394197.1:p.Pro190fs frameshift NM_001407269.1:c.450_460del NP_001394198.1:p.Pro151fs frameshift NM_001407270.1:c.567_577del NP_001394199.1:p.Pro190fs frameshift NM_001407271.1:c.450_460del NP_001394200.1:p.Pro151fs frameshift NC_000017.11:g.7674956_7674966del NC_000017.10:g.7578274_7578284del NG_017013.2:g.17587_17597del LRG_321:g.17587_17597del LRG_321t1:c.565_575del LRG_321p1:p.Pro190Serfs LRG_321t2:c.565_575del LRG_321:p.Pro190Serfs LRG_321t3:c.565_575del LRG_321p3:p.Pro190Serfs LRG_321t4:c.565_575del LRG_321p4:p.Pro190Serfs LRG_321t5:c.169_179del LRG_321p5:p.Pro58Serfs LRG_321t6:c.169_179del LRG_321p6:p.Pro58Serfs LRG_321t7:c.169_179del LRG_321p7:p.Pro58Serfs LRG_321t8:c.448_458del LRG_321p8:p.Pro151Serfs - Protein change
- P151fs, P190fs, P31fs, P58fs
- Other names
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- Canonical SPDI
- NC_000017.11:7674953:GCTGAGGAGGGGC:GC
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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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TP53 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3307 | 3402 |
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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Pathogenic (1) |
criteria provided, single submitter
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Nov 6, 2023 | RCV003510390.1 |
Submissions - Germline
Classification
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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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Pathogenic
(Nov 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV004335861.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Pro190Serfs*15) in the TP53 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Pro190Serfs*15) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TP53-related conditions. For these reasons, this variant has been classified as Pathogenic. (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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TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. | Ruijs MW | Journal of medical genetics | 2010 | PMID: 20522432 |
Text-mined citations for this variant ...
HelpRecord last updated Feb 20, 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.