NM_001379291.1:c.4021-16_4021-14delTTC
Variant names:
Variant summary
Our verdict is . The variant received 0 ACMG points: 2P and 2B. PM2BP6_Moderate
Uncertain significance
The NM_001379291.1(BRD4):c.4021-16_4021-14delTTC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: not found (cov: 32)
Consequence
BRD4
NM_001379291.1 intron
NM_001379291.1 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.0310
Publications
0 publications found
Genes affected
BRD4 (HGNC:13575): (bromodomain containing 4) The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
BRD4 Gene-Disease associations (from GenCC):
- syndromic intellectual disabilityInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- Cornelia de Lange syndrome 6Inheritance: AD Classification: STRONG Submitted by: G2P, PanelApp Australia
- Cornelia de Lange syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- multiple congenital anomalies/dysmorphic syndromeInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
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new If you want to explore the variant's impact on the transcript NM_001379291.1, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.
ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP6
Variant 19-15238458-GGAA-G is Benign according to our data. Variant chr19-15238458-GGAA-G is described in ClinVar as Likely_benign. ClinVar VariationId is 3654066.Status of the report is criteria_provided_single_submitter, 1 stars.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001379291.1. You can select a different transcript below to see updated ACMG assignments.
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
32
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
GnomAD4 genome
Cov.:
32
ClinVar
ClinVar submissions
View on ClinVar Significance:Likely benign
Revision:criteria provided, single submitter
Pathogenic
VUS
Benign
Condition
-
-
1
not provided (1)
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.
Publications
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