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NM_001429.4(EP300):c.454G>A (p.Gly152Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 27, 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:
RCV002545418.9

Allele description [Variation Report for NM_001429.4(EP300):c.454G>A (p.Gly152Ser)]

NM_001429.4(EP300):c.454G>A (p.Gly152Ser)

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.454G>A (p.Gly152Ser)
HGVS:
  • NC_000022.11:g.41117546G>A
  • NG_009817.1:g.29937G>A
  • NM_001362843.2:c.454G>A
  • NM_001429.4:c.454G>AMANE SELECT
  • NP_001349772.1:p.Gly152Ser
  • NP_001420.2:p.Gly152Ser
  • LRG_1422t1:c.454G>A
  • LRG_1422:g.29937G>A
  • LRG_1422p1:p.Gly152Ser
  • NC_000022.10:g.41513550G>A
  • NM_001429.3:c.454G>A
Protein change:
G152S
Links:
dbSNP: rs142758675
NCBI 1000 Genomes Browser:
rs142758675
Molecular consequence:
  • NM_001362843.2:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001429.4:c.454G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003746893Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003746893.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024