ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.812A>T (p.Glu271Val)
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.812A>T (p.Glu271Val)
Variation ID: 3147994 Accession: VCV003147994.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7673808 (GRCh38) [ NCBI UCSC ] 17: 7577126 (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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Nucleotide Protein Molecular
consequenceNM_000546.6:c.812A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Glu271Val missense NM_001126112.3:c.812A>T NP_001119584.1:p.Glu271Val missense NM_001126113.3:c.812A>T NP_001119585.1:p.Glu271Val missense NM_001126114.3:c.812A>T NP_001119586.1:p.Glu271Val missense NM_001126115.2:c.416A>T NP_001119587.1:p.Glu139Val missense NM_001126116.2:c.416A>T NP_001119588.1:p.Glu139Val missense NM_001126117.2:c.416A>T NP_001119589.1:p.Glu139Val missense NM_001126118.2:c.695A>T NP_001119590.1:p.Glu232Val missense NM_001276695.3:c.695A>T NP_001263624.1:p.Glu232Val missense NM_001276696.3:c.695A>T NP_001263625.1:p.Glu232Val missense NM_001276697.3:c.335A>T NP_001263626.1:p.Glu112Val missense NM_001276698.3:c.335A>T NP_001263627.1:p.Glu112Val missense NM_001276699.3:c.335A>T NP_001263628.1:p.Glu112Val missense NM_001276760.3:c.695A>T NP_001263689.1:p.Glu232Val missense NM_001276761.3:c.695A>T NP_001263690.1:p.Glu232Val missense NM_001407262.1:c.812A>T NP_001394191.1:p.Glu271Val missense NM_001407263.1:c.695A>T NP_001394192.1:p.Glu232Val missense NM_001407264.1:c.812A>T NP_001394193.1:p.Glu271Val missense NM_001407265.1:c.695A>T NP_001394194.1:p.Glu232Val missense NM_001407266.1:c.812A>T NP_001394195.1:p.Glu271Val missense NM_001407267.1:c.695A>T NP_001394196.1:p.Glu232Val missense NM_001407268.1:c.812A>T NP_001394197.1:p.Glu271Val missense NM_001407269.1:c.695A>T NP_001394198.1:p.Glu232Val missense NM_001407270.1:c.812A>T NP_001394199.1:p.Glu271Val missense NM_001407271.1:c.695A>T NP_001394200.1:p.Glu232Val missense NR_176326.1:n.841A>T non-coding transcript variant NC_000017.11:g.7673808T>A NC_000017.10:g.7577126T>A NG_017013.2:g.18743A>T LRG_321:g.18743A>T LRG_321t1:c.812A>T LRG_321p1:p.Glu271Val LRG_321t2:c.812A>T LRG_321:p.Glu271Val LRG_321t3:c.812A>T LRG_321p3:p.Glu271Val LRG_321t4:c.812A>T LRG_321p4:p.Glu271Val LRG_321t5:c.416A>T LRG_321p5:p.Glu139Val LRG_321t6:c.416A>T LRG_321p6:p.Glu139Val LRG_321t7:c.416A>T LRG_321p7:p.Glu139Val LRG_321t8:c.695A>T LRG_321p8:p.Glu232Val - Protein change
- E139V, E112V, E232V, E271V
- Other names
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- Canonical SPDI
- NC_000017.11:7673807:T:A
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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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Likely pathogenic (1) |
criteria provided, single submitter
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Feb 20, 2024 | RCV004437827.1 |
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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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: SCV004931217.1
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, 21343334]. This variant has been reported in multiple individuals … (more)
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965, 21343334]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 27501770]. (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 |
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. | Villani A | The Lancet. Oncology | 2016 | PMID: 27501770 |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | Monti P | Molecular cancer research : MCR | 2011 | PMID: 21343334 |
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.