This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 10864200].
ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.792_794del (p.Leu265del)
Germline
Classification
Help
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.
(1)
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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.
Likely pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000546.6(TP53):c.792_794del (p.Leu265del)
Variation ID: 3148284 Accession: VCV003148284.1
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 17p13.1 17: 7673826-7673828 (GRCh38) [ NCBI UCSC ] 17: 7577144-7577146 (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 May 1, 2024 May 1, 2024 Feb 20, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000546.6:c.792_794del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Leu265del inframe deletion NM_001126112.3:c.792_794del NP_001119584.1:p.Leu265del inframe deletion NM_001126113.3:c.792_794del NP_001119585.1:p.Leu265del inframe deletion NM_001126114.3:c.792_794del NP_001119586.1:p.Leu265del inframe deletion NM_001126115.2:c.396_398del NP_001119587.1:p.Leu133del inframe deletion NM_001126116.2:c.396_398del NP_001119588.1:p.Leu133del inframe deletion NM_001126117.2:c.396_398del NP_001119589.1:p.Leu133del inframe deletion NM_001126118.2:c.675_677del NP_001119590.1:p.Leu226del inframe deletion NM_001276695.3:c.675_677del NP_001263624.1:p.Leu226del inframe deletion NM_001276696.3:c.675_677del NP_001263625.1:p.Leu226del inframe deletion NM_001276697.3:c.315_317del NP_001263626.1:p.Leu106del inframe deletion NM_001276698.3:c.315_317del NP_001263627.1:p.Leu106del inframe deletion NM_001276699.3:c.315_317del NP_001263628.1:p.Leu106del inframe deletion NM_001276760.3:c.675_677del NP_001263689.1:p.Leu226del inframe deletion NM_001276761.3:c.675_677del NP_001263690.1:p.Leu226del inframe deletion NM_001407262.1:c.792_794del NP_001394191.1:p.Leu265del inframe deletion NM_001407263.1:c.675_677del NP_001394192.1:p.Leu226del inframe deletion NM_001407264.1:c.792_794del NP_001394193.1:p.Leu265del inframe deletion NM_001407265.1:c.675_677del NP_001394194.1:p.Leu226del inframe deletion NM_001407266.1:c.792_794del NP_001394195.1:p.Leu265del inframe deletion NM_001407267.1:c.675_677del NP_001394196.1:p.Leu226del inframe deletion NM_001407268.1:c.792_794del NP_001394197.1:p.Leu265del inframe deletion NM_001407269.1:c.675_677del NP_001394198.1:p.Leu226del inframe deletion NM_001407270.1:c.792_794del NP_001394199.1:p.Leu265del inframe deletion NM_001407271.1:c.675_677del NP_001394200.1:p.Leu226del inframe deletion NR_176326.1:n.821_823del non-coding transcript variant NC_000017.11:g.7673828_7673830del NC_000017.10:g.7577146_7577148del NG_017013.2:g.18723_18725del LRG_321:g.18723_18725del LRG_321t1:c.790_792del LRG_321p1:p.Leu265del LRG_321t2:c.790_792del LRG_321:p.Leu265del LRG_321t3:c.790_792del LRG_321p3:p.Leu265del LRG_321t4:c.790_792del LRG_321p4:p.Leu265del LRG_321t5:c.394_396del LRG_321p5:p.Leu133del LRG_321t6:c.394_396del LRG_321p6:p.Leu133del LRG_321t7:c.394_396del LRG_321p7:p.Leu133del LRG_321t8:c.673_675del LRG_321p8:p.Leu226del - Protein change
- L133del, L106del, L265del, L226del
- Other names
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- Canonical SPDI
- NC_000017.11:7673825:AGTAG:AG
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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
Help
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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
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
Help
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 |
3367 | 3466 | |
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Likely pathogenic (1) |
criteria provided, single submitter
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Feb 20, 2024 | RCV004440188.1 |
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
Help
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
Help
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
Help
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
(Feb 20, 2024)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome 1
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004931524.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant has been reported in multiple individuals with … (more)
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 10864200]. (less)
|
Comment:
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. |
Comment:
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 10864200].
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation. | Kotler E | Molecular cell | 2018 | PMID: 29979965 |
| P53 germline mutations in childhood cancers and cancer risk for carrier individuals. | Chompret A | British journal of cancer | 2000 | PMID: 10864200 |
Text-mined citations for this variant ...
HelpRecord last updated May 08, 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.