ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.505_506del (p.Met169fs)
No data submitted for germline classification
No data submitted for somatic clinical impact
The aggregate oncogenicity classification for this variant for one or more tumor types, using the ClinGen/CGC/VICC terminology. 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 oncogenicity 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.
Variant Details
- Identifiers
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NM_000546.6(TP53):c.505_506del (p.Met169fs)
Variation ID: 3258032 Accession: VCV003258032.1
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 17p13.1 17: 7675106-7675107 (GRCh38) [ NCBI UCSC ] 17: 7578424-7578425 (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.
Somatic - Oncogenicity Aug 11, 2024 Aug 11, 2024 Jul 31, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000546.6:c.505_506del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Met169fs frameshift NM_000546.6:c.505_506delAT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
frameshift NM_001126112.3:c.505_506del NP_001119584.1:p.Met169fs frameshift NM_001126113.3:c.505_506del NP_001119585.1:p.Met169fs frameshift NM_001126114.3:c.505_506del NP_001119586.1:p.Met169fs frameshift NM_001126115.2:c.109_110del NP_001119587.1:p.Met37fs frameshift NM_001126116.2:c.109_110del NP_001119588.1:p.Met37fs frameshift NM_001126117.2:c.109_110del NP_001119589.1:p.Met37fs frameshift NM_001126118.2:c.388_389del NP_001119590.1:p.Met130fs frameshift NM_001276695.3:c.388_389del NP_001263624.1:p.Met130fs frameshift NM_001276696.3:c.388_389del NP_001263625.1:p.Met130fs frameshift NM_001276697.3:c.28_29del NP_001263626.1:p.Met10fs frameshift NM_001276698.3:c.28_29del NP_001263627.1:p.Met10fs frameshift NM_001276699.3:c.28_29del NP_001263628.1:p.Met10fs frameshift NM_001276760.3:c.388_389del NP_001263689.1:p.Met130fs frameshift NM_001276761.3:c.388_389del NP_001263690.1:p.Met130fs frameshift NM_001407262.1:c.505_506del NP_001394191.1:p.Met169fs frameshift NM_001407263.1:c.388_389del NP_001394192.1:p.Met130fs frameshift NM_001407264.1:c.505_506del NP_001394193.1:p.Met169fs frameshift NM_001407265.1:c.388_389del NP_001394194.1:p.Met130fs frameshift NM_001407266.1:c.505_506del NP_001394195.1:p.Met169fs frameshift NM_001407267.1:c.388_389del NP_001394196.1:p.Met130fs frameshift NM_001407268.1:c.505_506del NP_001394197.1:p.Met169fs frameshift NM_001407269.1:c.388_389del NP_001394198.1:p.Met130fs frameshift NM_001407270.1:c.505_506del NP_001394199.1:p.Met169fs frameshift NM_001407271.1:c.388_389del NP_001394200.1:p.Met130fs frameshift NR_176326.1:n.647_648del non-coding transcript variant NC_000017.11:g.7675106_7675107del NC_000017.10:g.7578424_7578425del NG_017013.2:g.17444_17445del LRG_321:g.17444_17445del LRG_321t1:c.505_506del LRG_321p1:p.Met169Aspfs LRG_321t2:c.505_506del LRG_321:p.Met169Aspfs LRG_321t3:c.505_506del LRG_321p3:p.Met169Aspfs LRG_321t4:c.505_506del LRG_321p4:p.Met169Aspfs LRG_321t5:c.109_110del LRG_321p5:p.Met37Aspfs LRG_321t6:c.109_110del LRG_321p6:p.Met37Aspfs LRG_321t7:c.109_110del LRG_321p7:p.Met37Aspfs LRG_321t8:c.388_389del LRG_321p8:p.Met130Aspfs - Protein change
- M130fs, M10fs, M37fs, M169fs
- Other names
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- Canonical SPDI
- NC_000017.11:7675105:AT:
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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 | ||
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| 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 |
3373 | 3472 | |
Conditions - Somatic
| Tumor type
Help
The tumor type for this variant-condition (RCV) record in ClinVar. |
Clinical impact (# of submissions)
Help
The aggregate somatic clinical impact for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate somatic clinical impact is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status. |
Oncogenicity
Help
The aggregate oncogenicity classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to the aggregate oncogenicity classification is shown in parentheses. The corresponding review status for the RCV record is indicated by stars. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the tumor type. |
Variation/condition record
Help
The most recent date that a submitter evaluated this variant for the tumor type. |
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Oncogenic
criteria provided, single submitter
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Jul 31, 2024 | RCV004666620.1 |
Submissions - Somatic
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Oncogenicity
Help
The submitted oncogenicity 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) |
Tumor type
Help
The tumor type 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 somatic clinical impact, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Oncogenic
(Jul 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Neoplasm
Affected status: unknown
Allele origin:
somatic
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV005094444.1
First In ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
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Citations for somatic classification of this variant
Help| There are no citations for somatic 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 Aug 11, 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.