NM_000546.6(TP53):c.96+15_96+31del AND Hereditary cancer-predisposing syndrome

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jun 18, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000161043.3

Allele description [Variation Report for NM_000546.6(TP53):c.96+15_96+31del]

NM_000546.6(TP53):c.96+15_96+31del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.96+15_96+31del

HGVS:

NC_000017.11:g.7676351_7676367del
NG_017013.2:g.16184_16200del
NM_000546.6:c.96+15_96+31delMANE SELECT
NM_001126112.3:c.96+15_96+31del
NM_001126113.3:c.96+15_96+31del
NM_001126114.3:c.96+15_96+31del
NM_001126118.2:c.-22+15_-22+31del
NM_001276695.3:c.-22+15_-22+31del
NM_001276696.3:c.-22+15_-22+31del
NM_001276760.3:c.-22+15_-22+31del
NM_001276761.3:c.-22+15_-22+31del
LRG_321:g.16184_16200del
NC_000017.10:g.7579669_7579685del
NM_000546.4:c.96+15_96+31delTGGGCTGGGGACCTGGA

Links:

dbSNP: rs730882011

NCBI 1000 Genomes Browser:

rs730882011

Molecular consequence:

NM_000546.6:c.96+15_96+31del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126112.3:c.96+15_96+31del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126113.3:c.96+15_96+31del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126114.3:c.96+15_96+31del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126118.2:c.-22+15_-22+31del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276695.3:c.-22+15_-22+31del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276696.3:c.-22+15_-22+31del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276760.3:c.-22+15_-22+31del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276761.3:c.-22+15_-22+31del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000211773	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jan 10, 2014)	germline	clinical testing	Citation Link,
SCV002582300	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (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

SCV000211773

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jan 10, 2014)

germline

clinical testing

Citation Link,

SCV002582300

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(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
not provided	germline	yes	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 GeneDx, SCV000211773.2

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

Description

The variant is found in BR-OV-HEREDIC panel(s).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV002582300.1

#	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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