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NM_000546.5(TP53):c.811G>A (p.Glu271Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Apr 5, 2019
Accession:
VCV000406566.4
Variation ID:
406566
Description:
single nucleotide variant
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NM_000546.5(TP53):c.811G>A (p.Glu271Lys)

Allele ID
403011
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p13.1
Genomic location
17: 7673809 (GRCh38) GRCh38 UCSC
17: 7577127 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.7577127C>T
NC_000017.11:g.7673809C>T
NM_001126112.2:c.811G>A NP_001119584.1:p.Glu271Lys missense
... more HGVS
Protein change
E139K, E271K, E232K, E112K
Other names
-
Canonical SPDI
NC_000017.11:7673808:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1060501191
ClinGen: CA16615939
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Apr 5, 2019 RCV000775714.3
Uncertain significance 1 criteria provided, single submitter Oct 25, 2016 RCV000457572.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TP53 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2197 2260

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 25, 2016)
criteria provided, single submitter
Method: clinical testing
Li-Fraumeni syndrome
Allele origin: germline
Invitae
Accession: SCV000545276.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 271 of the TP53 protein (p.Glu271Lys). The glutamic acid residue is highly conserved and there … (more)
Uncertain significance
(Sep 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000910131.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Apr 05, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001189712.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.E271K variant (also known as c.811G>A), located in coding exon 7 of the TP53 gene, results from a G to A substitution at nucleotide … (more)

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1060501191...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021