NM_000546.6(TP53):c.920-14_920-3del AND Li-Fraumeni syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 18, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002290635.2

Allele description [Variation Report for NM_000546.6(TP53):c.920-14_920-3del]

NM_000546.6(TP53):c.920-14_920-3del

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.920-14_920-3del

HGVS:

NC_000017.11:g.7673611_7673622del
NC_000017.11:g.7673618_7673629del
NG_017013.2:g.18929_18940del
NM_000546.6:c.920-14_920-3delMANE SELECT
NM_001126112.3:c.920-14_920-3del
NM_001126113.3:c.920-14_920-3del
NM_001126114.3:c.920-14_920-3del
NM_001126115.2:c.524-14_524-3del
NM_001126116.2:c.524-14_524-3del
NM_001126117.2:c.524-14_524-3del
NM_001126118.2:c.803-14_803-3del
NM_001276695.3:c.803-14_803-3del
NM_001276696.3:c.803-14_803-3del
NM_001276697.3:c.443-14_443-3del
NM_001276698.3:c.443-14_443-3del
NM_001276699.3:c.443-14_443-3del
NM_001276760.3:c.803-14_803-3del
NM_001276761.3:c.803-14_803-3del
LRG_321t1:c.920-14_920-3del
LRG_321:g.18929_18940del
NC_000017.10:g.7576929_7576940del
NC_000017.10:g.7576936_7576947del
NM_000546.5:c.920-14_920-3del
NM_000546.5:c.920-14_920-3delTGCCTCTTTCCT

Links:

dbSNP: rs768598540

NCBI 1000 Genomes Browser:

rs768598540

Molecular consequence:

NM_000546.6:c.920-14_920-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126112.3:c.920-14_920-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126113.3:c.920-14_920-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126114.3:c.920-14_920-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126115.2:c.524-14_524-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126116.2:c.524-14_524-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126117.2:c.524-14_524-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126118.2:c.803-14_803-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276695.3:c.803-14_803-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276696.3:c.803-14_803-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276697.3:c.443-14_443-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276698.3:c.443-14_443-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276699.3:c.443-14_443-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276760.3:c.803-14_803-3del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276761.3:c.803-14_803-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Li-Fraumeni syndrome 1 (LFS)
Identifiers:: Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002582999	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 18, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002582999

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 18, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002582999.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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