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NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs) AND Intellectual developmental disorder with dysmorphic facies and ptosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 14, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001264737.1

Allele description [Variation Report for NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)]

NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)

Gene:
BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)
HGVS:
  • NC_000003.12:g.9739557dup
  • NG_052955.1:g.12829dup
  • NM_001003694.2:c.1158dupMANE SELECT
  • NM_001319049.2:c.1158dup
  • NM_001319050.2:c.1158dup
  • NM_004634.3:c.1158dup
  • NP_001003694.1:p.Tyr387fs
  • NP_001305978.1:p.Tyr387fs
  • NP_001305979.1:p.Tyr387fs
  • NP_004625.2:p.Tyr387fs
  • NC_000003.11:g.9781241dup
  • NM_001003694.1:c.1158dupC
  • NR_160918.1:n.1572dup
Protein change:
Y387fs
Links:
dbSNP: rs2076994968
NCBI 1000 Genomes Browser:
rs2076994968
Molecular consequence:
  • NM_001003694.2:c.1158dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319049.2:c.1158dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319050.2:c.1158dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004634.3:c.1158dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_160918.1:n.1572dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP)
Identifiers:
MONDO: MONDO:0015022; MedGen: C4310617; OMIM: 617333

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442968Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
no assertion criteria provided
Likely pathogenic
(Sep 14, 2020) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV001442968.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022