NM_001429.4(EP300):c.3078G>C (p.Glu1026Asp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 15, 2021
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:: RCV002539350.2

Allele description [Variation Report for NM_001429.4(EP300):c.3078G>C (p.Glu1026Asp)]

NM_001429.4(EP300):c.3078G>C (p.Glu1026Asp)

Genes:

LOC126863158:BRD4-independent group 4 enhancer GRCh37_chr22:41547383-41548582 [Gene]
EP300:E1A binding protein p300 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_001429.4(EP300):c.3078G>C (p.Glu1026Asp)

HGVS:

NC_000022.11:g.41152286G>C
NG_009817.1:g.64677G>C
NM_001362843.2:c.3000G>C
NM_001429.4:c.3078G>CMANE SELECT
NP_001349772.1:p.Glu1000Asp
NP_001420.2:p.Glu1026Asp
LRG_1422t1:c.3078G>C
LRG_1422:g.64677G>C
LRG_1422p1:p.Glu1026Asp
NC_000022.10:g.41548290G>C
NM_001429.3:c.3078G>C

Protein change:

E1000D

Links:

dbSNP: rs1601621514

NCBI 1000 Genomes Browser:

rs1601621514

Molecular consequence:

NM_001362843.2:c.3000G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001429.4:c.3078G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003583687	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003583687

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 15, 2021)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003583687.2

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

Description

The c.3078G>C (p.E1026D) alteration is located in exon 16 (coding exon 16) of the EP300 gene. This alteration results from a G to C substitution at nucleotide position 3078, causing the glutamic acid (E) at amino acid position 1026 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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