The c.806_808delGCT variant (also known as p.S269_F270delinsI) is located in coding exon 7 of the TP53 gene. This variant results from an in-frame GCT deletion at nucleotide positions 806 to 808. This results in the substitution of serine and phenylalanine residues at codon 269-270 with an isoleucine residue. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.806_808del (p.Ser269_Phe270delinsIle)
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)
Help
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.
Uncertain significance
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.806_808del (p.Ser269_Phe270delinsIle)
Variation ID: 1761845 Accession: VCV001761845.2
- Type and length
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Deletion, 3 bp
- Location
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Cytogenetic: 17p13.1 17: 7673812-7673814 (GRCh38) [ NCBI UCSC ] 17: 7577130-7577132 (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 Nov 29, 2022 May 1, 2024 Aug 3, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000546.6:c.806_808del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Ser269_Phe270delinsIle inframe indel NM_001126112.3:c.806_808del NP_001119584.1:p.Ser269_Phe270delinsIle inframe indel NM_001126113.3:c.806_808del NP_001119585.1:p.Ser269_Phe270delinsIle inframe indel NM_001126114.3:c.806_808del NP_001119586.1:p.Ser269_Phe270delinsIle inframe indel NM_001126115.2:c.410_412del NP_001119587.1:p.Ser137_Phe138delinsIle inframe indel NM_001126116.2:c.410_412del NP_001119588.1:p.Ser137_Phe138delinsIle inframe indel NM_001126117.2:c.410_412del NP_001119589.1:p.Ser137_Phe138delinsIle inframe indel NM_001126118.2:c.689_691del NP_001119590.1:p.Ser230_Phe231delinsIle inframe indel NM_001276695.3:c.689_691del NP_001263624.1:p.Ser230_Phe231delinsIle inframe indel NM_001276696.3:c.689_691del NP_001263625.1:p.Ser230_Phe231delinsIle inframe indel NM_001276697.3:c.329_331del NP_001263626.1:p.Ser110_Phe111delinsIle inframe indel NM_001276698.3:c.329_331del NP_001263627.1:p.Ser110_Phe111delinsIle inframe indel NM_001276699.3:c.329_331del NP_001263628.1:p.Ser110_Phe111delinsIle inframe indel NM_001276760.3:c.689_691del NP_001263689.1:p.Ser230_Phe231delinsIle inframe indel NM_001276761.3:c.689_691del NP_001263690.1:p.Ser230_Phe231delinsIle inframe indel NM_001407262.1:c.806_808delGCT NP_001394191.1:p.Ser269_Phe270delinsIle inframe indel NM_001407263.1:c.689_691delGCT NP_001394192.1:p.Ser230_Phe231delinsIle inframe indel NM_001407264.1:c.806_808delGCT NP_001394193.1:p.Ser269_Phe270delinsIle inframe indel NM_001407265.1:c.689_691delGCT NP_001394194.1:p.Ser230_Phe231delinsIle inframe indel NM_001407266.1:c.806_808delGCT NP_001394195.1:p.Ser269_Phe270delinsIle inframe indel NM_001407267.1:c.689_691delGCT NP_001394196.1:p.Ser230_Phe231delinsIle inframe indel NM_001407268.1:c.806_808delGCT NP_001394197.1:p.Ser269_Phe270delinsIle inframe indel NM_001407269.1:c.689_691delGCT NP_001394198.1:p.Ser230_Phe231delinsIle inframe indel NM_001407270.1:c.806_808delGCT NP_001394199.1:p.Ser269_Phe270delinsIle inframe indel NM_001407271.1:c.689_691delGCT NP_001394200.1:p.Ser230_Phe231delinsIle inframe indel NR_176326.1:n.835_837delGCT NC_000017.11:g.7673812_7673814del NC_000017.10:g.7577130_7577132del NG_017013.2:g.18737_18739del LRG_321:g.18737_18739del LRG_321t1:c.806_808del LRG_321p1:p.Ser269_Phe270delinsIle LRG_321t2:c.806_808del LRG_321:p.Ser269_Phe270delinsIle LRG_321t3:c.806_808del LRG_321p3:p.Ser269_Phe270delinsIle LRG_321t4:c.806_808del LRG_321p4:p.Ser269_Phe270delinsIle LRG_321t5:c.410_412del LRG_321p5:p.Ser137_Phe138delinsIle LRG_321t6:c.410_412del LRG_321p6:p.Ser137_Phe138delinsIle LRG_321t7:c.410_412del LRG_321p7:p.Ser137_Phe138delinsIle LRG_321t8:c.689_691del LRG_321p8:p.Ser230_Phe231delinsIle - Protein change
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- Other names
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- Canonical SPDI
- NC_000017.11:7673811:AGC:
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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. |
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| Uncertain significance (1) |
criteria provided, single submitter
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Aug 3, 2021 | RCV002419354.2 |
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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Uncertain significance
(Aug 03, 2021)
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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: SCV002678448.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.806_808delGCT variant (also known as p.S269_F270delinsI) is located in coding exon 7 of the TP53 gene. This variant results from an in-frame GCT deletion … (more)
The c.806_808delGCT variant (also known as p.S269_F270delinsI) is located in coding exon 7 of the TP53 gene. This variant results from an in-frame GCT deletion at nucleotide positions 806 to 808. This results in the substitution of serine and phenylalanine residues at codon 269-270 with an isoleucine residue. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (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:
The c.806_808delGCT variant (also known as p.S269_F270delinsI) is located in coding exon 7 of the TP53 gene. This variant results from an in-frame GCT deletion at nucleotide positions 806 to 808. This results in the substitution of serine and phenylalanine residues at codon 269-270 with an isoleucine residue. This amino acid region is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There 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 01, 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.