ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.769del (p.Leu257fs)
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.769del (p.Leu257fs)
Variation ID: 3232063 Accession: VCV003232063.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7674194 (GRCh38) [ NCBI UCSC ] 17: 7577512 (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 Nov 14, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.769del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Leu257fs frameshift NM_001126112.3:c.769del NP_001119584.1:p.Leu257fs frameshift NM_001126113.3:c.769del NP_001119585.1:p.Leu257fs frameshift NM_001126114.3:c.769del NP_001119586.1:p.Leu257fs frameshift NM_001126115.2:c.373del NP_001119587.1:p.Leu125fs frameshift NM_001126116.2:c.373del NP_001119588.1:p.Leu125fs frameshift NM_001126117.2:c.373del NP_001119589.1:p.Leu125fs frameshift NM_001126118.2:c.652del NP_001119590.1:p.Leu218fs frameshift NM_001276695.3:c.652del NP_001263624.1:p.Leu218fs frameshift NM_001276696.3:c.652del NP_001263625.1:p.Leu218fs frameshift NM_001276697.3:c.292del NP_001263626.1:p.Leu98fs frameshift NM_001276698.3:c.292del NP_001263627.1:p.Leu98fs frameshift NM_001276699.3:c.292del NP_001263628.1:p.Leu98fs frameshift NM_001276760.3:c.652del NP_001263689.1:p.Leu218fs frameshift NM_001276761.3:c.652del NP_001263690.1:p.Leu218fs frameshift NM_001407262.1:c.769del NP_001394191.1:p.Leu257fs frameshift NM_001407263.1:c.652del NP_001394192.1:p.Leu218fs frameshift NM_001407264.1:c.769del NP_001394193.1:p.Leu257fs frameshift NM_001407265.1:c.652del NP_001394194.1:p.Leu218fs frameshift NM_001407266.1:c.769del NP_001394195.1:p.Leu257fs frameshift NM_001407267.1:c.652del NP_001394196.1:p.Leu218fs frameshift NM_001407268.1:c.769del NP_001394197.1:p.Leu257fs frameshift NM_001407269.1:c.652del NP_001394198.1:p.Leu218fs frameshift NM_001407270.1:c.769del NP_001394199.1:p.Leu257fs frameshift NM_001407271.1:c.652del NP_001394200.1:p.Leu218fs frameshift NR_176326.1:n.798del non-coding transcript variant NC_000017.11:g.7674194del NC_000017.10:g.7577512del NG_017013.2:g.18357del LRG_321:g.18357del LRG_321t1:c.769del LRG_321p1:p.Leu257Trpfs LRG_321t2:c.769del LRG_321:p.Leu257Trpfs LRG_321t3:c.769del LRG_321p3:p.Leu257Trpfs LRG_321t4:c.769del LRG_321p4:p.Leu257Trpfs LRG_321t5:c.373del LRG_321p5:p.Leu125Trpfs LRG_321t6:c.373del LRG_321p6:p.Leu125Trpfs LRG_321t7:c.373del LRG_321p7:p.Leu125Trpfs LRG_321t8:c.652del LRG_321p8:p.Leu218Trpfs - Protein change
- L125fs, L218fs, L257fs, L98fs
- Other names
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- Canonical SPDI
- NC_000017.11:7674193:G:
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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 |
3366 | 3465 |
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 14, 2023 | RCV004518778.1 |
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 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV005036109.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.769delC pathogenic mutation, located in coding exon 6 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 769, causing … (more)
The c.769delC pathogenic mutation, located in coding exon 6 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 769, causing a translational frameshift with a predicted alternate stop codon (p.L257Wfs*88). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (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
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 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.