NM_000546.6(TP53):c.643dup (p.Ser215fs) AND Ovarian neoplasm

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2018
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:: RCV000785298.2

Allele description [Variation Report for NM_000546.6(TP53):c.643dup (p.Ser215fs)]

NM_000546.6(TP53):c.643dup (p.Ser215fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.643dup (p.Ser215fs)

HGVS:

NC_000017.11:g.7674888dup
NG_017013.2:g.17663dup
NM_000546.6:c.643dupMANE SELECT
NM_001126112.3:c.643dup
NM_001126113.3:c.643dup
NM_001126114.3:c.643dup
NM_001126115.2:c.247dup
NM_001126116.2:c.247dup
NM_001126117.2:c.247dup
NM_001126118.2:c.526dup
NM_001276695.3:c.526dup
NM_001276696.3:c.526dup
NM_001276697.3:c.166dup
NM_001276698.3:c.166dup
NM_001276699.3:c.166dup
NM_001276760.3:c.526dup
NM_001276761.3:c.526dup
NP_000537.3:p.Ser215fs
NP_000537.3:p.Ser215fs
NP_001119584.1:p.Ser215fs
NP_001119585.1:p.Ser215fs
NP_001119586.1:p.Ser215fs
NP_001119587.1:p.Ser83fs
NP_001119588.1:p.Ser83fs
NP_001119589.1:p.Ser83fs
NP_001119590.1:p.Ser176fs
NP_001263624.1:p.Ser176fs
NP_001263625.1:p.Ser176fs
NP_001263626.1:p.Ser56fs
NP_001263627.1:p.Ser56fs
NP_001263628.1:p.Ser56fs
NP_001263689.1:p.Ser176fs
NP_001263690.1:p.Ser176fs
LRG_321t1:c.643dup
LRG_321:g.17663dup
LRG_321p1:p.Ser215fs
NC_000017.10:g.7578206dup
NM_000546.5:c.643dup

Protein change:

S176fs

Links:

dbSNP: rs1567551402

NCBI 1000 Genomes Browser:

rs1567551402

Molecular consequence:

NM_000546.6:c.643dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.643dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.643dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.643dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126115.2:c.247dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126116.2:c.247dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126117.2:c.247dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.526dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.526dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.526dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276697.3:c.166dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276698.3:c.166dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276699.3:c.166dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.526dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.526dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Ovarian neoplasm
Synonyms:: Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:: MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

Recent activity

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Centaurea nigra ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (r...
Centaurea nigra ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast
gi|2238503532|gnl|uoguelph|SDP92701 rbcLa|gb|MW497157.1|

Nucleotide
Centaurea nigra voucher Hilpold 20093038, Garcia-Jacas & Vilatersana (BC) ycf3-t...
Centaurea nigra voucher Hilpold 20093038, Garcia-Jacas & Vilatersana (BC) ycf3-trnS intergenic spacer, partial sequence; chloroplast
gi|566971571|gb|KF721210.1|

Nucleotide
Centaurea nigra isolate 26 ribulose-1,5-bisphosphate carboxylase/oxygenase large...
Centaurea nigra isolate 26 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast
gi|2282748697|gnl|uoguelph|SDP96801 rbcLa|gb|MZ676678.1|

Nucleotide
Centaurea nigra voucher Hilpold 20095129 (BC) clone 2 internal transcribed space...
Centaurea nigra voucher Hilpold 20095129 (BC) clone 2 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|566971327|gb|KF721063.1|

Nucleotide
LOC109279878 [Mus musculus]
LOC109279878 [Mus musculus]
Gene ID:109279878

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000923866	German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	no assertion criteria provided	Pathogenic (Dec 1, 2018)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000923866

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

no assertion criteria provided

Pathogenic
(Dec 1, 2018)

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV000923866.1

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

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

Last Updated: Jul 15, 2024

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