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NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 2023
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:
RCV003271265.2

Allele description [Variation Report for NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)]

NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)

Gene:
BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)
HGVS:
  • NC_000003.12:g.9743696_9743717delinsTCTGGCATC
  • NG_052955.1:g.16968_16989delinsTCTGGCATC
  • NM_001003694.2:c.2430_2451delinsTCTGGCATCMANE SELECT
  • NM_001319049.2:c.2412_2433delinsTCTGGCATC
  • NM_001319050.2:c.2409_2430delinsTCTGGCATC
  • NM_001410704.1:c.2427_2448delinsTCTGGCATC
  • NM_004634.3:c.2412_2433delinsTCTGGCATC
  • NP_001003694.1:p.Arg811fs
  • NP_001305978.1:p.Arg805fs
  • NP_001305979.1:p.Arg804fs
  • NP_001397633.1:p.Arg810fs
  • NP_004625.2:p.Arg805fs
  • NC_000003.11:g.9785380_9785401delinsTCTGGCATC
  • NM_001003694.1:c.2430_2451del22insTCTGGCATC
  • NR_160918.1:n.3013_3034delinsTCTGGCATC
Protein change:
R804fs
Molecular consequence:
  • NM_001003694.2:c.2430_2451delinsTCTGGCATC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319049.2:c.2412_2433delinsTCTGGCATC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319050.2:c.2409_2430delinsTCTGGCATC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001410704.1:c.2427_2448delinsTCTGGCATC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004634.3:c.2412_2433delinsTCTGGCATC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_160918.1:n.3013_3034delinsTCTGGCATC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003972270Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 25, 2023) 		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, SCV003972270.2

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

Description

The c.2430_2451del22insTCTGGCATC (p.R811Lfs*8) alteration, located in exon 8 (coding exon 7) of the BRPF1 gene, consists of a deletion of 22 and insertion of 9 nucleotides, causing a translational frameshift at position 2430 with a predicted alternate stop codon after 8 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: May 1, 2024