19-15238894-CGCT-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_001379291.1(BRD4):c.3866_3868del(p.Gln1289del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000107 in 1,593,628 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. Q1289Q) has been classified as Likely benign.
Frequency
Consequence
NM_001379291.1 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRD4 | NM_001379291.1 | c.3866_3868del | p.Gln1289del | inframe_deletion | 19/20 | ENST00000679869.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRD4 | ENST00000679869.1 | c.3866_3868del | p.Gln1289del | inframe_deletion | 19/20 | NM_001379291.1 | P1 | ||
BRD4 | ENST00000263377.6 | c.3866_3868del | p.Gln1289del | inframe_deletion | 19/20 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000387 AC: 78AN: 201756Hom.: 0 AF XY: 0.000406 AC XY: 45AN XY: 110718
GnomAD4 exome AF: 0.000115 AC: 166AN: 1441484Hom.: 0 AF XY: 0.000141 AC XY: 101AN XY: 715646
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74326
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Jul 29, 2023 | This variant, c.3866_3868del, results in the deletion of 1 amino acid(s) of the BRD4 protein (p.Gln1289del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BRD4-related conditions. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at