rs3918142
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BS1_SupportingBS2
The NM_005104.4(BRD2):c.1500_1502delGGA(p.Glu500del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.0302 in 1,612,630 control chromosomes in the GnomAD database, including 928 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_005104.4 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 |
---|---|---|---|---|---|---|---|---|
BRD2 | NM_005104.4 | c.1500_1502delGGA | p.Glu500del | disruptive_inframe_deletion | Exon 9 of 13 | ENST00000374825.9 | NP_005095.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0222 AC: 3372AN: 151894Hom.: 53 Cov.: 32
GnomAD3 exomes AF: 0.0256 AC: 6312AN: 246560Hom.: 137 AF XY: 0.0278 AC XY: 3740AN XY: 134350
GnomAD4 exome AF: 0.0311 AC: 45361AN: 1460616Hom.: 875 AF XY: 0.0315 AC XY: 22917AN XY: 726638
GnomAD4 genome AF: 0.0221 AC: 3367AN: 152014Hom.: 53 Cov.: 32 AF XY: 0.0208 AC XY: 1543AN XY: 74344
ClinVar
Submissions by phenotype
not provided Uncertain:2
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BRD2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at