NM_003722.5(TP63):c.192-9_192-8del AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 6, 2015
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:: RCV000177177.4

Allele description [Variation Report for NM_003722.5(TP63):c.192-9_192-8del]

NM_003722.5(TP63):c.192-9_192-8del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3q28

Genomic location:

Preferred name:

NM_003722.5(TP63):c.192-9_192-8del

HGVS:

NC_000003.12:g.189738633_189738634del
NG_007550.3:g.146888_146889del
NM_001114978.2:c.192-9_192-8del
NM_001114979.2:c.192-9_192-8del
NM_001329144.2:c.192-9_192-8del
NM_001329148.2:c.192-9_192-8del
NM_001329964.2:c.186-9_186-8del
NM_003722.5:c.192-9_192-8delMANE SELECT
LRG_428t1:c.192-9_192-8del
LRG_428:g.146888_146889del
NC_000003.11:g.189456421_189456422del
NC_000003.11:g.189456422_189456423del
NM_003722.4:c.192-9_192-8del
NM_003722.4:c.192-9_192-8delAT

Links:

dbSNP: rs794727498

NCBI 1000 Genomes Browser:

rs794727498

Molecular consequence:

NM_001114978.2:c.192-9_192-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001114979.2:c.192-9_192-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001329144.2:c.192-9_192-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001329148.2:c.192-9_192-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001329964.2:c.186-9_186-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_003722.5:c.192-9_192-8del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000229010	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jan 6, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000229010

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jan 6, 2015)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000229010.5

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

Last Updated: Sep 29, 2024

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