NM_003722.5(TP63):c.1717_1719dup (p.Ile573dup) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2022
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:: RCV002214309.12

Allele description

NM_003722.5(TP63):c.1717_1719dup (p.Ile573dup)

Gene:

TP63:tumor protein p63 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q28

Genomic location:

Preferred name:

NM_003722.5(TP63):c.1717_1719dup (p.Ile573dup)

HGVS:

NC_000003.12:g.189890853_189890855dup
NG_007550.3:g.299108_299110dup
NM_001114978.2:c.1652+1369_1652+1371dup
NM_001114980.2:c.1435_1437dup
NM_001114981.2:c.1370+1369_1370+1371dup
NM_001329144.2:c.1508-3353_1508-3351dup
NM_001329145.2:c.1226-3353_1226-3351dup
NM_001329146.2:c.1180_1182dup
NM_001329148.2:c.1705_1707dup
NM_001329149.2:c.1214-3353_1214-3351dup
NM_001329150.2:c.959-3353_959-3351dup
NM_001329964.2:c.1711_1713dup
NM_003722.5:c.1717_1719dupMANE SELECT
NP_001108452.1:p.Ile479dup
NP_001316075.1:p.Ile394dup
NP_001316077.1:p.Ile569dup
NP_001316893.1:p.Ile571dup
NP_003713.3:p.Ile573dup
LRG_428t1:c.1717_1719dup
LRG_428:g.299108_299110dup
LRG_428p1:p.Ile573dup
NC_000003.11:g.189608642_189608644dup

Links:

dbSNP: rs2108864901

NCBI 1000 Genomes Browser:

rs2108864901

Molecular consequence:

NM_001114980.2:c.1435_1437dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001329146.2:c.1180_1182dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001329148.2:c.1705_1707dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001329964.2:c.1711_1713dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_003722.5:c.1717_1719dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001114978.2:c.1652+1369_1652+1371dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001114981.2:c.1370+1369_1370+1371dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001329144.2:c.1508-3353_1508-3351dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001329145.2:c.1226-3353_1226-3351dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001329149.2:c.1214-3353_1214-3351dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001329150.2:c.959-3353_959-3351dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002497238	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002497238

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Mar 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002497238.12

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

Description

TP63: PS2, PM2, PM4

#	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		1	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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