NM_000546.6(TP53):c.376-12del AND Prostate cancer, hereditary, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003484962.1

Allele description [Variation Report for NM_000546.6(TP53):c.376-12del]

NM_000546.6(TP53):c.376-12del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.376-12del

HGVS:

NC_000017.11:g.7675249del
NG_017013.2:g.17303del
NM_000546.6:c.376-12delMANE SELECT
NM_001126112.3:c.376-12del
NM_001126113.3:c.376-12del
NM_001126114.3:c.376-12del
NM_001126115.1:c.-34delC
NM_001126116.1:c.-34delC
NM_001126117.1:c.-34delC
NM_001126118.2:c.259-12del
NM_001276695.3:c.259-12del
NM_001276696.3:c.259-12del
NM_001276697.1:c.-115delC
NM_001276698.1:c.-115delC
NM_001276699.1:c.-115delC
NM_001276760.3:c.259-12del
NM_001276761.3:c.259-12del
NM_001407262.1:c.376-12del
NM_001407263.1:c.259-12del
NM_001407264.1:c.376-12del
NM_001407265.1:c.259-12del
NM_001407266.1:c.376-12del
NM_001407267.1:c.259-12del
NM_001407268.1:c.376-12del
NM_001407269.1:c.259-12del
NM_001407270.1:c.376-12del
NM_001407271.1:c.259-12del
LRG_321t5:c.-34del
LRG_321t6:c.-34del
LRG_321t7:c.-34del
LRG_321:g.17303del
NC_000017.10:g.7578567del
NM_000546.6:c.376-12delCMANE SELECT

Molecular consequence:

NM_000546.6:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126112.3:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126113.3:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126114.3:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001126118.2:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276695.3:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276696.3:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276760.3:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001276761.3:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407262.1:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407263.1:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407264.1:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407265.1:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407266.1:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407267.1:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407268.1:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407269.1:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407270.1:c.376-12del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407271.1:c.259-12del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Prostate cancer, hereditary, 1 (HPC1)
Identifiers:: MONDO: MONDO:0011098; MedGen: C4722327; Orphanet: 1331; OMIM: 601518

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004232145	Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca	no assertion criteria provided	Uncertain significance (Jan 1, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004232145

Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca

no assertion criteria provided

Uncertain significance
(Jan 1, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca, SCV004232145.1

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

#	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

Last Updated: Nov 3, 2024

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Relating variation to medicine