NM_000546.6(TP53):c.383del (p.Pro128fs) 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:: RCV003483739.1

Allele description [Variation Report for NM_000546.6(TP53):c.383del (p.Pro128fs)]

NM_000546.6(TP53):c.383del (p.Pro128fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.383del (p.Pro128fs)

HGVS:

NC_000017.10:g.7578547del
NC_000017.11:g.7675232del
NG_017013.2:g.17322del
NM_000546.6:c.383delMANE SELECT
NM_001126112.3:c.383del
NM_001126113.3:c.383del
NM_001126114.3:c.383del
NM_001126115.2:c.-14del
NM_001126116.2:c.-14del
NM_001126117.2:c.-14del
NM_001126118.2:c.266del
NM_001276695.3:c.266del
NM_001276696.3:c.266del
NM_001276697.3:c.-95del
NM_001276698.3:c.-95del
NM_001276699.3:c.-95del
NM_001276760.3:c.266del
NM_001276761.3:c.266del
NP_000537.3:p.Pro128fs
NP_001119584.1:p.Pro128fs
NP_001119585.1:p.Pro128fs
NP_001119586.1:p.Pro128fs
NP_001119590.1:p.Pro89fs
NP_001263624.1:p.Pro89fs
NP_001263625.1:p.Pro89fs
NP_001263689.1:p.Pro89fs
NP_001263690.1:p.Pro89fs
LRG_321:g.17322del
NC_000017.10:g.7578547del
NC_000017.10:g.7578547delG
NC_000017.10:g.7578550del
NM_000546.5:c.383delC
NM_000546.6:c.383delCMANE SELECT

Protein change:

P128fs

Links:

dbSNP: rs1597371666

NCBI 1000 Genomes Browser:

rs1597371666

Molecular consequence:

NM_001126115.2:c.-14del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001126116.2:c.-14del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001126117.2:c.-14del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276697.3:c.-95del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276698.3:c.-95del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276699.3:c.-95del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.383del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.266del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004232084	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

SCV004232084

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, SCV004232084.1

#	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: Sep 29, 2024

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