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NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)

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Interpretation:
Uncertain significance​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
7 (Most recent: Oct 22, 2021)
Last evaluated:
Apr 12, 2021
Accession:
VCV000182953.11
Variation ID:
182953
Description:
2bp indel
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NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)

Allele ID
181026
Variant type
Indel
Variant length
2 bp
Cytogenetic location
17p13.1
Genomic location
17: 7676154-7676155 (GRCh38) GRCh38 UCSC
17: 7579472-7579473 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_321:g.16396_16397delinsTG
LRG_321t1:c.214_215delinsTG LRG_321p1:p.Pro72Cys
LRG_321t2:c.214_215delinsTG
... more HGVS
Protein change
P72C, P33C
Other names
p.P72C:CCC>TGC
Canonical SPDI
NC_000017.11:7676153:GG:CA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000069
dbSNP: rs730882014
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 reviewed by expert panel Apr 12, 2021 RCV000410841.2
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Sep 15, 2021 RCV000587915.3
Uncertain significance 1 criteria provided, single submitter Sep 8, 2020 RCV000554325.6
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 25, 2020 RCV000161055.10
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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
2216 2279

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 12, 2021)
reviewed by expert panel
Method: curation
Li-Fraumeni syndrome 1
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen TP53 Variant Curation Expert Panel,ClinGen
FDA Recognized Database
Accession: SCV001737948.1
Submitted: (Jun 18, 2021)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
his variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant has been observed in 4 60+ year old females without a cancer diagnosis … (more)
Likely benign
(Dec 11, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215338.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Insufficient or conflicting evidence
Uncertain significance
(Sep 15, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000211787.14
Submitted: (Oct 22, 2021)
Evidence details
Comment:
Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Published … (more)
Uncertain significance
(Apr 20, 2016)
criteria provided, single submitter
Method: clinical testing
Li-Fraumeni syndrome 1
Allele origin: unknown
Counsyl
Accession: SCV000488534.1
Submitted: (Nov 23, 2016)
Evidence details
Uncertain significance
(Mar 14, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697436.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The c.214_215delinsTG variant affects two nucleotides, resulting in amino acid change from Pro to Cys. One in-silico tool predicts benign outcome for this … (more)
Uncertain significance
(Jan 25, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000686727.3
Submitted: (May 19, 2020)
Comment:
This missense variant replaces proline with cysteine at codon 72 of the TP53 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
Evidence details
Uncertain significance
(Sep 08, 2020)
criteria provided, single submitter
Method: clinical testing
Li-Fraumeni syndrome
Allele origin: germline
Invitae
Accession: SCV000629788.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces proline with cysteine at codon 72 of the TP53 protein (p.Pro72Cys). The proline residue is moderately conserved and there is a … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/b7e523bb-93f5-4505-943a-3286739499c5 - - - -

Text-mined citations for rs730882014...

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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 Dec 04, 2021