chr19-15238870-TGCTGCTGCTGCTGTTGCTCCTGGC-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_001379291.1(BRD4):c.3869_3892delGCCAGGAGCAACAGCAGCAGCAGC(p.Arg1290_Gln1297del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.0000525 in 152,322 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001379291.1 disruptive_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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BRD4 | NM_001379291.1 | c.3869_3892delGCCAGGAGCAACAGCAGCAGCAGC | p.Arg1290_Gln1297del | disruptive_inframe_deletion | Exon 19 of 20 | ENST00000679869.1 | NP_001366220.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BRD4 | ENST00000679869.1 | c.3869_3892delGCCAGGAGCAACAGCAGCAGCAGC | p.Arg1290_Gln1297del | disruptive_inframe_deletion | Exon 19 of 20 | NM_001379291.1 | ENSP00000506350.1 | |||
BRD4 | ENST00000263377.6 | c.3869_3892delGCCAGGAGCAACAGCAGCAGCAGC | p.Arg1290_Gln1297del | disruptive_inframe_deletion | Exon 19 of 20 | 1 | ENSP00000263377.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000933 AC: 20AN: 214406Hom.: 1 AF XY: 0.000102 AC XY: 12AN XY: 117580
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000139 AC: 201AN: 1443812Hom.: 1 AF XY: 0.000144 AC XY: 103AN XY: 716798
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74484
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant, c.3869_3892del, results in the deletion of 8 amino acid(s) of the BRD4 protein (p.Arg1290_Gln1297del), 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. This variant has not been reported in the literature in individuals affected with BRD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 2197471). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at