NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 11, 2025
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:: RCV005251243.1

Allele description [Variation Report for NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)]

NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)

HGVS:

NC_000017.11:g.7675073_7675090del
NG_017013.2:g.17468_17485del
NM_000546.4:c.529_546delCCCCACCATGAGCGCTGC
NM_000546.6:c.529_546delMANE SELECT
NM_001126112.3:c.529_546del
NM_001126113.3:c.529_546del
NM_001126114.3:c.529_546del
NM_001126115.2:c.133_150del
NM_001126116.2:c.133_150del
NM_001126117.2:c.133_150del
NM_001126118.2:c.412_429del
NM_001276695.3:c.412_429del
NM_001276696.3:c.412_429del
NM_001276697.3:c.52_69del
NM_001276698.3:c.52_69del
NM_001276699.3:c.52_69del
NM_001276760.3:c.412_429del
NM_001276761.3:c.412_429del
NP_000537.3:p.Pro177_Cys182del
NP_001119584.1:p.Pro177_Cys182del
NP_001119585.1:p.Pro177_Cys182del
NP_001119586.1:p.Pro177_Cys182del
NP_001119587.1:p.Pro45_Cys50del
NP_001119588.1:p.Pro45_Cys50del
NP_001119589.1:p.Pro45_Cys50del
NP_001119590.1:p.Pro138_Cys143del
NP_001263624.1:p.Pro138_Cys143del
NP_001263625.1:p.Pro138_Cys143del
NP_001263626.1:p.Pro18_Cys23del
NP_001263627.1:p.Pro18_Cys23del
NP_001263628.1:p.Pro18_Cys23del
NP_001263689.1:p.Pro138_Cys143del
NP_001263690.1:p.Pro138_Cys143del
LRG_321t1:c.529_546del
LRG_321:g.17468_17485del
NC_000017.10:g.7578384_7578401del
NC_000017.10:g.7578391_7578408del
NM_000546.5:c.529_546del
NM_000546.6:c.529_546del

Links:

dbSNP: rs2073361326

Molecular consequence:

NM_000546.6:c.529_546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126112.3:c.529_546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126113.3:c.529_546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126114.3:c.529_546del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126115.2:c.133_150del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126116.2:c.133_150del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126117.2:c.133_150del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001126118.2:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276695.3:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276696.3:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276697.3:c.52_69del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276698.3:c.52_69del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276699.3:c.52_69del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276760.3:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276761.3:c.412_429del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005903104	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	criteria provided, single submitter (ClinGen TP53 V1.4.0)	Uncertain significance (Mar 11, 2025)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005903104

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

criteria provided, single submitter

(ClinGen TP53 V1.4.0)

Uncertain significance
(Mar 11, 2025)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV005903104.1

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

Description

According to the ClinGen ACMG TP53 v1.4.0 criteria we chose these criteria: PS2 (medium pathogenic): Kwong (2020, PMID: 33138793): Confirmed Germline de novo with VAF = 33.1%; Breast cancer with Age of Dx of 30 --> 2P, PS4 (supporting pathogenic): 2 x LFS1 Fälle (Lefrou L et al 2006, Ayan I et al 1997), 1 de novo; weitere Daten fehlen, PM1 (medium pathogenic): 10x in cancer hotspots, PM2 (supporting pathogenic): absent from gnomAD v4/3/2, PP3 (supporting pathogenic): BayesDel: 0,6431

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

Last Updated: Apr 12, 2026

ClinVar

Relating variation to medicine