NM_000546.6(TP53):c.216del (p.Val73fs) AND Li-Fraumeni syndrome 1

Germline classification:: Pathogenic (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:: RCV002289676.2

Allele description [Variation Report for NM_000546.6(TP53):c.216del (p.Val73fs)]

NM_000546.6(TP53):c.216del (p.Val73fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.216del (p.Val73fs)

HGVS:

NC_000017.11:g.7676158del
NG_017013.2:g.16398del
NM_000546.6:c.216delMANE SELECT
NM_001126112.3:c.216del
NM_001126113.3:c.216del
NM_001126114.3:c.216del
NM_001126118.2:c.99del
NM_001276695.3:c.99del
NM_001276696.3:c.99del
NM_001276760.3:c.99del
NM_001276761.3:c.99del
NP_000537.3:p.Val73fs
NP_001119584.1:p.Val73fs
NP_001119585.1:p.Val73fs
NP_001119586.1:p.Val73fs
NP_001119590.1:p.Val34fs
NP_001263624.1:p.Val34fs
NP_001263625.1:p.Val34fs
NP_001263689.1:p.Val34fs
NP_001263690.1:p.Val34fs
LRG_321:g.16398del
NC_000017.10:g.7579471del
NC_000017.10:g.7579476del
NM_000546.4:c.216delC

Protein change:

V34fs

Links:

dbSNP: rs730882018

NCBI 1000 Genomes Browser:

rs730882018

Molecular consequence:

NM_000546.6:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.216del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.99del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.99del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.99del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.99del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.99del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002583185	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (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

SCV002583185

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(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, SCV002583185.1

#	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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