ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.613_618del (p.Tyr205_Leu206del)
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.613_618del (p.Tyr205_Leu206del)
Variation ID: 3148403 Accession: VCV003148403.1
- Type and length
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Deletion, 6 bp
- Location
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Cytogenetic: 17p13.1 17: 7674913-7674918 (GRCh38) [ NCBI UCSC ] 17: 7578231-7578236 (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 15, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.613_618del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Tyr205_Leu206del inframe deletion NM_001126112.3:c.613_618del NP_001119584.1:p.Tyr205_Leu206del inframe deletion NM_001126113.3:c.613_618del NP_001119585.1:p.Tyr205_Leu206del inframe deletion NM_001126114.3:c.613_618del NP_001119586.1:p.Tyr205_Leu206del inframe deletion NM_001126115.2:c.217_222del NP_001119587.1:p.Tyr73_Leu74del inframe deletion NM_001126116.2:c.217_222del NP_001119588.1:p.Tyr73_Leu74del inframe deletion NM_001126117.2:c.217_222del NP_001119589.1:p.Tyr73_Leu74del inframe deletion NM_001126118.2:c.496_501del NP_001119590.1:p.Tyr166_Leu167del inframe deletion NM_001276695.3:c.496_501del NP_001263624.1:p.Tyr166_Leu167del inframe deletion NM_001276696.3:c.496_501del NP_001263625.1:p.Tyr166_Leu167del inframe deletion NM_001276697.3:c.136_141del NP_001263626.1:p.Tyr46_Leu47del inframe deletion NM_001276698.3:c.136_141del NP_001263627.1:p.Tyr46_Leu47del inframe deletion NM_001276699.3:c.136_141del NP_001263628.1:p.Tyr46_Leu47del inframe deletion NM_001276760.3:c.496_501del NP_001263689.1:p.Tyr166_Leu167del inframe deletion NM_001276761.3:c.496_501del NP_001263690.1:p.Tyr166_Leu167del inframe deletion NM_001407262.1:c.613_618del NP_001394191.1:p.Tyr205_Leu206del inframe deletion NM_001407263.1:c.496_501del NP_001394192.1:p.Tyr166_Leu167del inframe deletion NM_001407264.1:c.613_618del NP_001394193.1:p.Tyr205_Leu206del inframe deletion NM_001407265.1:c.496_501del NP_001394194.1:p.Tyr166_Leu167del inframe deletion NM_001407266.1:c.613_618del NP_001394195.1:p.Tyr205_Leu206del inframe deletion NM_001407267.1:c.496_501del NP_001394196.1:p.Tyr166_Leu167del inframe deletion NM_001407268.1:c.613_618del NP_001394197.1:p.Tyr205_Leu206del inframe deletion NM_001407269.1:c.496_501del NP_001394198.1:p.Tyr166_Leu167del inframe deletion NM_001407270.1:c.613_618del NP_001394199.1:p.Tyr205_Leu206del inframe deletion NM_001407271.1:c.496_501del NP_001394200.1:p.Tyr166_Leu167del inframe deletion NC_000017.11:g.7674914_7674919del NC_000017.10:g.7578232_7578237del NG_017013.2:g.17633_17638del LRG_321:g.17633_17638del LRG_321t1:c.612_617del LRG_321p1:p.Tyr205_Leu206del LRG_321t2:c.612_617del LRG_321:p.Tyr205_Leu206del LRG_321t3:c.612_617del LRG_321p3:p.Tyr205_Leu206del LRG_321t4:c.612_617del LRG_321p4:p.Tyr205_Leu206del LRG_321t5:c.216_221del LRG_321p5:p.Tyr73_Leu74del LRG_321t6:c.216_221del LRG_321p6:p.Tyr73_Leu74del LRG_321t7:c.216_221del LRG_321p7:p.Tyr73_Leu74del LRG_321t8:c.495_500del LRG_321p8:p.Tyr166_Leu167del - Protein change
- Other names
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- Canonical SPDI
- NC_000017.11:7674912:CAAATAC: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
Help
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 |
3317 | 3412 |
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
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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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Likely pathogenic (1) |
criteria provided, single submitter
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Feb 15, 2024 | RCV004440309.1 |
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 15, 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: SCV004932634.1
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 is expected to disrupt protein structure [Myriad … (more)
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad internal data]. (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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A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation. | Kotler E | Molecular cell | 2018 | PMID: 29979965 |
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.