NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 1, 2024
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:: RCV004546459.6

Allele description [Variation Report for NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)]

NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)

Gene:

EP300:E1A binding protein p300 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)

HGVS:

NC_000022.11:g.41178285_41178296del
NG_009817.1:g.90676_90687del
NM_001362843.2:c.6496_6507del
NM_001429.3:c.6574_6585del12
NM_001429.4:c.6574_6585delMANE SELECT
NP_001349772.1:p.Gln2166_Gln2169del
NP_001420.2:p.Gln2192_Gln2195del
LRG_1422t1:c.6574_6585del
LRG_1422:g.90676_90687del
LRG_1422p1:p.Gln2192_Gln2195del
NC_000022.10:g.41574282_41574293del
NC_000022.10:g.41574289_41574300del
NM_001429.3:c.6574_6585delCAGCAGCAACAG

Links:

dbSNP: rs875989807

NCBI 1000 Genomes Browser:

rs875989807

Molecular consequence:

NM_001362843.2:c.6496_6507del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001429.4:c.6574_6585del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV005041875	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Apr 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005041875

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Likely benign
(Apr 1, 2024)

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, SCV005041875.6

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

Description

EP300: BS2

#	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: Oct 20, 2024

ClinVar

Relating variation to medicine