NM_000546.6(TP53):c.96+41_97-54del AND Breast and/or ovarian cancer

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 21, 2021
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:: RCV001798864.3

Allele description [Variation Report for NM_000546.6(TP53):c.96+41_97-54del]

NM_000546.6(TP53):c.96+41_97-54del

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.96+41_97-54del

HGVS:

NC_000017.11:g.7676335TCCAGGTCCCCAGCCC[1]
NG_017013.2:g.16194ACCTGGAGGGCTGGGG[1]
NM_000546.6:c.96+41_97-54delMANE SELECT
NM_001126112.3:c.96+41_97-54del
NM_001126113.3:c.96+41_97-54del
NM_001126114.3:c.96+41_97-54del
NM_001126118.2:c.-22+41_-21-54del
NM_001276695.3:c.-22+41_-21-54del
NM_001276696.3:c.-22+41_-21-54del
NM_001276760.3:c.-22+41_-21-54del
NM_001276761.3:c.-22+41_-21-54del
LRG_321t1:c.96+41_97-54del
LRG_321:g.16194ACCTGGAGGGCTGGGG[1]
NC_000017.10:g.7579653TCCAGGTCCCCAGCCC[1]
NC_000017.10:g.7579669_7579684delTCCAGGTCCCCAGCCC
NM_000546.4:c.96+16_96+31delGGGCTGGGGACCTGGA
NM_000546.5:c.96+41_97-54del

Links:

dbSNP: rs59758982

NCBI 1000 Genomes Browser:

rs59758982

Molecular consequence:

NM_000546.6:c.96+41_97-54del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126112.3:c.96+41_97-54del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126113.3:c.96+41_97-54del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126114.3:c.96+41_97-54del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126118.2:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276695.3:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276696.3:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276760.3:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276761.3:c.-22+41_-21-54del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

Recent activity

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PREDICTED: Rattus norvegicus rabaptin, RAB GTPase binding effector protein 1 (Ra...
PREDICTED: Rattus norvegicus rabaptin, RAB GTPase binding effector protein 1 (Rabep1), transcript variant X5, mRNA
gi|2678880879|ref|XM_008767861.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002042838	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 21, 2021)	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

SCV002042838

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Apr 21, 2021)

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	unknown	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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002042838.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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