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NM_000546.5(TP53):c.1100+8A>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000237939.5
Variation ID:
237939
Description:
single nucleotide variant
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 26, 2020 RCV000229362.7
Likely benign 1 criteria provided, single submitter Aug 29, 2016 RCV000580314.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 15, 2019 RCV000437181.2
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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
2189 2252

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 29, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000686717.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Apr 06, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000514946.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Feb 15, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001360866.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (9)
Comment:
Variant summary: TP53 c.1100+8A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Likely benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
Li-Fraumeni syndrome
Allele origin: germline
Invitae
Accession: SCV000285171.7
Submitted: (Jan 07, 2021)
Evidence details

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
The mutational landscape of accelerated- and blast-phase myeloproliferative neoplasms impacts patient outcomes. McNamara CJ Blood advances 2018 PMID: 30327374
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
TP53 mutations in newly diagnosed acute myeloid leukemia: Clinicomolecular characteristics, response to therapy, and outcomes. Kadia TM Cancer 2016 PMID: 27463065
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
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 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

Text-mined citations for rs878854062...

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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 Jun 14, 2021