NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs) AND Global developmental delay

Germline classification:: Pathogenic (1 submission)
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:: RCV001526572.3

Allele description [Variation Report for NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)]

NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)

Gene:

BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)

HGVS:

NC_000003.12:g.9739581_9739582del
NG_052955.1:g.12853_12854del
NM_001003694.2:c.1182_1183delMANE SELECT
NM_001319049.2:c.1182_1183del
NM_001319050.2:c.1182_1183del
NM_004634.3:c.1182_1183del
NP_001003694.1:p.Ala396fs
NP_001305978.1:p.Ala396fs
NP_001305979.1:p.Ala396fs
NP_004625.2:p.Ala396fs
NC_000003.11:g.9781265_9781266del
NM_001003694.1:c.1182_1183del
NM_001003694.1:c.1182_1183delAG
NM_001003694.2:c.1182_1183delAGMANE SELECT
NR_160918.1:n.1596_1597del

Protein change:

A396fs

Links:

dbSNP: rs1575155995

NCBI 1000 Genomes Browser:

rs1575155995

Molecular consequence:

NM_001003694.2:c.1182_1183del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319049.2:c.1182_1183del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319050.2:c.1182_1183del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004634.3:c.1182_1183del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_160918.1:n.1596_1597del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001736998	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001736998

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001736998.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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