ClinVar Genomic variation as it relates to human health
NM_000546.6(TP53):c.375G>A (p.Thr125=)
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.375G>A (p.Thr125=)
Variation ID: 177825 Accession: VCV000177825.50
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17p13.1 17: 7675994 (GRCh38) [ NCBI UCSC ] 17: 7579312 (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 Sep 28, 2017 Apr 20, 2024 Dec 28, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000546.6:c.375G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000537.3:p.Thr125= synonymous NM_001126112.3:c.375G>A NP_001119584.1:p.Thr125= synonymous NM_001126113.3:c.375G>A NP_001119585.1:p.Thr125= synonymous NM_001126114.3:c.375G>A NP_001119586.1:p.Thr125= synonymous NM_001126118.2:c.258G>A NP_001119590.1:p.Thr86= synonymous NM_001276695.3:c.258G>A NP_001263624.1:p.Thr86= synonymous NM_001276696.3:c.258G>A NP_001263625.1:p.Thr86= synonymous NM_001276760.3:c.258G>A NP_001263689.1:p.Thr86= synonymous NM_001276761.3:c.258G>A NP_001263690.1:p.Thr86= synonymous NC_000017.11:g.7675994C>T NC_000017.10:g.7579312C>T NG_017013.2:g.16557G>A LRG_321:g.16557G>A LRG_321t1:c.375G>A LRG_321p1:p.Thr125= - Protein change
- Other names
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- Canonical SPDI
- NC_000017.11:7675993:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- sequence_variant_affecting_splicing Sequence Ontology [SO:1000071]
- Intron inclusion between exons 4 & 5, based on review of RNA-seq in NCI-H2347 cancer cell line which has TP53 NM_000546.5:c.375G>A variant. [submitted by MutSpliceDB: a database of splice sites variants effects on splicing, NIH]
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
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
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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 |
3211 | 3306 |
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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Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Dec 28, 2023 | RCV000154460.18 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Feb 21, 2023 | RCV000218743.10 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jul 11, 2023 | RCV000483667.16 | |
Pathogenic (1) |
no assertion criteria provided
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Sep 1, 2020 | RCV001257525.4 | |
Pathogenic (1) |
no assertion criteria provided
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Jun 11, 2019 | RCV001271053.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 28, 2020 | RCV001530197.4 | |
Pathogenic (1) |
no assertion criteria provided
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Mar 19, 2021 | RCV001527480.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 18, 2022 | RCV002288665.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 19, 2022 | RCV003398806.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 29, 2023 | RCV003462060.1 |
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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Pathogenic
(Oct 26, 2020)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697430.2
First in ClinVar: Dec 26, 2017 Last updated: Nov 11, 2020 |
Comment:
Variant summary: TP53 c.375G>A (p.Thr125Thr) alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Variant summary: TP53 c.375G>A (p.Thr125Thr) alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing. The variant was absent in 250746 control chromosomes. c.375G>A has been reported in the literature as co-segregating with disease in multiple individuals affected with Li-Fraumeni Syndrome/Li-Fraunemi like Syndrome (example, Varley_1998, Warneford_1992, Wasserman_2015) as well in settings of somatic malignancies. These data indicate that the variant is very likely to be associated with disease. Several publications report experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in sensitivity to radiation-induced chromosome damage in the G2 phase of the cell cycle (Varley_1998). Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jun 23, 2015)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450280.1
First in ClinVar: Dec 10, 2020 Last updated: Dec 10, 2020 |
Number of individuals with the variant: 2
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Pathogenic
(Feb 28, 2020)
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criteria provided, single submitter
Method: clinical testing
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Glioma susceptibility 1
Affected status: yes
Allele origin:
germline
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Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
Accession: SCV001739492.1
First in ClinVar: Jul 07, 2021 Last updated: Jul 07, 2021 |
Number of individuals with the variant: 1
Age: 10-19 years
Sex: female
Ethnicity/Population group: East asia
Geographic origin: China
Testing laboratory: Liwei's Lab
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Pathogenic
(Feb 15, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000602269.2
First in ClinVar: Sep 28, 2017 Last updated: Jan 01, 2022 |
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Pathogenic
(Jun 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002582609.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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Pathogenic
(Jun 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome 1
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002583171.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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Pathogenic
(Mar 14, 2022)
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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: SCV000277767.7
First in ClinVar: May 29, 2016 Last updated: Nov 29, 2022 |
Comment:
The c.375G>A pathogenic mutation (also known as p.T125T), located in coding exon 3 of the TP53 gene, results from a G to A substitution at … (more)
The c.375G>A pathogenic mutation (also known as p.T125T), located in coding exon 3 of the TP53 gene, results from a G to A substitution at nucleotide position 375. This nucleotide substitution does not change the threonine at codon 125. However, this change occurs in the last base pair of coding exon 3, which makes it likely to have some effect on normal mRNA splicing. This mutation has been reported in numerous patients and families meeting Li-Fraumeni, Li-Fraumeni-like, and Chompret criteria (Varley JM et al. Cancer Res. 1997 Aug;57:3245-3252; Bougeard G et al. J. Med. Genet. 2008 Aug;45(8):535-8; Ruijs MW et al. J. Med. Genet. 2010 Jun;47(6):421-8; Mouchawar J et al. Cancer Res. 2010 Jun 15;70(12):4795-800; Foretova L et al. Klin. Onkol. 2010;23:388-400; Herrmann LJ et al. J. Clin. Endocrinol. Metab. 2012 Mar;97(3):E476-85; Hettmer S et al. Cancer. 2014 Apr 1;120(7):1068-75; Fortes FP et al. Braz. J. Med. Biol. Res. 2015 Jul;48(7):610-5; Gröbner SN et al. Nature. 2018 03;555(7696):321-327). Of note, this alteration is also designated as g.12299G>A in published literature. One study showed evidence of intron 3 retention in affected individuals with this mutation (Warneford SG et al. Cell Growth Differ. 1992 Nov;3(11):839-46) and this is supported by our internal RNA studies (Ambry internal data). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Jul 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000567386.6
First in ClinVar: Apr 27, 2017 Last updated: Aug 13, 2023 |
Comment:
Published functional studies demonstrate aberrant splicing, impaired transactivation, abnormal cellular localization, and loss of growth suppression ability (Warneford 1992, Varley 1997, Varley 2001, Kotler 2018, … (more)
Published functional studies demonstrate aberrant splicing, impaired transactivation, abnormal cellular localization, and loss of growth suppression ability (Warneford 1992, Varley 1997, Varley 2001, Kotler 2018, Lasham 2020, Pinto 2021); In silico analysis supports a deleterious effect on splicing; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 1467311, 28818333, 32504368, 34282142, 20501846, 22170717, 18511570, 24665023, 20522432, 26425688, 25525159, 24382691, 9242456, 1751410, 25584008, 1961027, 11420676, 23259501, 28347348, 29170254, 28026089, 28604612, 25945745, 29489754, 29979965, 30107858, 31439692, 32213968, 32888145, 30720243, 31105275, 32287321, 26582918, 33818021, 33011440, 33372952, 34539730, 33245408, 32427313, 34961499, 35512711, 37377903, 9681828, 30612635, 34887416, 34675114, Almeida2022[article], 35543639, 36428697, 15510160) (less)
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Pathogenic
(Dec 19, 2022)
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criteria provided, single submitter
Method: clinical testing
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TP53-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004111187.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The TP53 c.375G>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to strongly reduce the stregth of … (more)
The TP53 c.375G>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to strongly reduce the stregth of the neighboring splice donor site. This variant has been reported in several individuals with Li-Fraumeni and Li-Fraumeni-like syndrome (see for example, Warneford et al 1992. PubMed ID: 1467311; Wasserman JD et al 2015. PubMed ID: 25584008). These studies and others provide evidence that this variant segregates with disease in families and disrupts TP53 splicing. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is classified as pathogenic by several laboratories in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/177825/). We also clasify this variant as patogenic. (less)
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Pathogenic
(Oct 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Adrenocortical carcinoma, hereditary
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004206208.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Feb 21, 2023)
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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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Color Diagnostics, LLC DBA Color Health
Accession: SCV004360011.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This variant alters the highly conserved, last nucleotide c.G in exon 4 of the TP53 gene and is predicted to abolish intron 4 splice donor … (more)
This variant alters the highly conserved, last nucleotide c.G in exon 4 of the TP53 gene and is predicted to abolish intron 4 splice donor site. This variant has been reported in individuals affected with Li-Fraumeni syndrome (PMID: 9242456, 11420676, 30107858), rhabdomyosarcoma (PMID: 24382691, 27501770, 33372952) and adrenocortical carcinoma (PMID: 22170717, 25584008), as well as in a family with Li-Fraumeni-like syndrome with an unusual spectrum of tumors at relatively late onset (PMID: 9681828). RT-PCR analysis of mRNA from the carriers in this family has detected no normally spliced transcript but three different aberrantly spliced transcripts from the mutant TP53 allele. All three aberrant transcripts are predicted to result in premature protein truncation (PMID: 9681828). Cells from the carriers showed increased sensitivity to radiation-induced chromosome damage in the G2 phase of the cell cycle, and decreased transient and permanent G1 arrest (PMID: 9681828). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of TP53 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Dec 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000629813.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change affects codon 125 of the TP53 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
This sequence change affects codon 125 of the TP53 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TP53 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Li-Fraumeni syndrome (PMID: 1467311, 9242456, 11420676, 18511570, 21348412, 22170717, 24382691, 25584008, 25945745, 27501770). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 177825). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in altered splicing and introduces a premature termination codon (PMID: 1467311, 11420676). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Apr 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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Li-Fraumeni syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004823813.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
This variant alters the highly conserved, last nucleotide c.G in exon 4 of the TP53 gene and is predicted to abolish intron 4 splice donor … (more)
This variant alters the highly conserved, last nucleotide c.G in exon 4 of the TP53 gene and is predicted to abolish intron 4 splice donor site. This variant has been reported in individuals affected with Li-Fraumeni syndrome (PMID: 9242456, 11420676, 30107858), rhabdomyosarcoma (PMID: 24382691, 27501770, 33372952) and adrenocortical carcinoma (PMID: 22170717, 25584008), as well as in a family with Li-Fraumeni-like syndrome with an unusual spectrum of tumors at relatively late onset (PMID: 9681828). RT-PCR analysis of mRNA from the carriers in this family has detected no normally splice transcript but three different aberrantly spliced transcripts from the mutant TP53 allele. All three aberrant transcripts are predicted to result in premature protein truncation (PMID: 9681828). Cells from the carriers showed increased sensitivity to radiation-induced chromosome damage in the G2 phase of the cell cycle, and decreased transient and permanent G1 arrest (PMID: 9681828). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of TP53 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000692091.1
First in ClinVar: Feb 19, 2018 Last updated: Feb 19, 2018 |
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Pathogenic
(Jul 31, 2008)
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no assertion criteria provided
Method: clinical testing
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Li-Fraumeni syndrome
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000204129.4
First in ClinVar: Jan 31, 2015 Last updated: Aug 13, 2019 |
Number of individuals with the variant: 1
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Pathogenic
(Sep 01, 2020)
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no assertion criteria provided
Method: provider interpretation
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Rhabdomyosarcoma
Affected status: yes
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV001434351.1
First in ClinVar: Oct 02, 2020 Last updated: Oct 02, 2020 |
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Pathogenic
(Jun 11, 2019)
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no assertion criteria provided
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: yes
Allele origin:
germline
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CZECANCA consortium
Accession: SCV001451872.1
First in ClinVar: Dec 24, 2020 Last updated: Dec 24, 2020 |
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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Pathogenic
(Mar 19, 2021)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of prostate
Affected status: yes
Allele origin:
germline
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University Health Network, Princess Margaret Cancer Centre
Accession: SCV001738499.1
First in ClinVar: Jun 26, 2021 Last updated: Jun 26, 2021 |
Secondary finding: yes
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Pathogenic
(Aug 26, 2022)
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no assertion criteria provided
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV002589023.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
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not provided
(-)
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no classification provided
Method: in vitro
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not provided
Affected status: not applicable
Allele origin:
not applicable
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MutSpliceDB: a database of splice sites variants effects on splicing, NIH
Accession: SCV000925737.2
First in ClinVar: Jul 04, 2019 Last updated: Jul 04, 2019 |
Method: Based on review of RNA-seq data in sample with variant.
Result:
Intron inclusion between exons 4 & 5
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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sequence_variant_affecting_splicing
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MutSpliceDB: a database of splice sites variants effects on splicing, NIH
Accession: SCV000925737.2
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Comment:
Intron inclusion between exons 4 & 5, based on review of RNA-seq in NCI-H2347 cancer cell line which has TP53 NM_000546.5:c.375G>A variant.
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. | Li H | Journal of the National Cancer Institute | 2021 | PMID: 33372952 |
The mutational landscape of accelerated- and blast-phase myeloproliferative neoplasms impacts patient outcomes. | McNamara CJ | Blood advances | 2018 | PMID: 30327374 |
Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients. | Paixão D | Cancer imaging : the official publication of the International Cancer Imaging Society | 2018 | PMID: 30107858 |
The landscape of genomic alterations across childhood cancers. | Gröbner SN | Nature | 2018 | PMID: 29489754 |
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. | Döhner H | Blood | 2017 | PMID: 27895058 |
The impact of TP53 mutations and TP53 deletions on survival varies between AML, ALL, MDS and CLL: an analysis of 3307 cases. | Stengel A | Leukemia | 2017 | PMID: 27680515 |
TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes. | Welch JS | The New England journal of medicine | 2016 | PMID: 27959731 |
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 |
TP53 mutations in newly diagnosed acute myeloid leukemia: Clinicomolecular characteristics, response to therapy, and outcomes. | Kadia TM | Cancer | 2016 | PMID: 27463065 |
Genomic Classification and Prognosis in Acute Myeloid Leukemia. | Papaemmanuil E | The New England journal of medicine | 2016 | PMID: 27276561 |
Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival. | Mullany LK | Neoplasia (New York, N.Y.) | 2015 | PMID: 26585234 |
TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution. | Hou HA | Blood cancer journal | 2015 | PMID: 26230955 |
TP53 mutation characteristics in therapy-related myelodysplastic syndromes and acute myeloid leukemia is similar to de novo diseases. | Ok CY | Journal of hematology & oncology | 2015 | PMID: 25952993 |
DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations. | Fortes FP | Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas | 2015 | PMID: 25945745 |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. | Wasserman JD | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 25584008 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | Xiong HY | Science (New York, N.Y.) | 2015 | PMID: 25525159 |
Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. | Hettmer S | Cancer | 2014 | PMID: 24382691 |
Functional characterisation of p53 mutants identified in breast cancers with suboptimal responses to anthracyclines or mitomycin. | Berge EO | Biochimica et biophysica acta | 2013 | PMID: 23246812 |
A novel hierarchical prognostic model of AML solely based on molecular mutations. | Grossmann V | Blood | 2012 | PMID: 22915647 |
TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome. | Rücker FG | Blood | 2012 | PMID: 22186996 |
TP53 germline mutations in adult patients with adrenocortical carcinoma. | Herrmann LJ | The Journal of clinical endocrinology and metabolism | 2012 | PMID: 22170717 |
TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. | Jädersten M | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2011 | PMID: 21519010 |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. | Monti P | Molecular cancer research : MCR | 2011 | PMID: 21343334 |
Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience. | Foretova L | Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti | 2010 | PMID: 21348412 |
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. | Jordan JJ | Molecular cancer research : MCR | 2010 | PMID: 20407015 |
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. | Bougeard G | Journal of medical genetics | 2008 | PMID: 18511570 |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype. | Monti P | Clinical cancer research : an official journal of the American Association for Cancer Research | 2007 | PMID: 17606709 |
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. | Buratti E | Nucleic acids research | 2007 | PMID: 17576681 |
Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y). | Ferrone M | Molecular cancer therapeutics | 2006 | PMID: 16818505 |
A peptide that binds and stabilizes p53 core domain: chaperone strategy for rescue of oncogenic mutants. | Friedler A | Proceedings of the National Academy of Sciences of the United States of America | 2002 | PMID: 11782540 |
Characterization of germline TP53 splicing mutations and their genetic and functional analysis. | Varley JM | Oncogene | 2001 | PMID: 11420676 |
Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family. | Varley JM | Oncogene | 1998 | PMID: 9681828 |
Statistical features of human exons and their flanking regions. | Zhang MQ | Human molecular genetics | 1998 | PMID: 9536098 |
17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ. | Soenen V | Blood | 1998 | PMID: 9446663 |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. | Varley JM | Cancer research | 1997 | PMID: 9242456 |
Germ-line splicing mutation of the p53 gene in a cancer-prone family. | Warneford SG | Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research | 1992 | PMID: 1467311 |
New laws about sexual misconduct by therapists: knowledge and attitudes among Wisconsin psychiatrists. | Bemmann KC | Wisconsin medical journal | 1989 | PMID: 2750177 |
https://brb.nci.nih.gov/cgi-bin/splicing/splicing_evidence.cgi?caid=CA000144 | - | - | - | - |
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Text-mined citations for rs55863639 ...
HelpRecord last updated Apr 20, 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.