22-49776154-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001304808.3(BRD1):c.3127G>A(p.Gly1043Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000561 in 1,604,112 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G1043A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001304808.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BRD1 | NM_001304808.3 | c.3127G>A | p.Gly1043Ser | missense_variant | Exon 11 of 13 | ENST00000404760.6 | NP_001291737.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152074Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000837 AC: 2AN: 238896Hom.: 0 AF XY: 0.00000767 AC XY: 1AN XY: 130438
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1452038Hom.: 0 Cov.: 33 AF XY: 0.00000415 AC XY: 3AN XY: 722708
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152074Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74268
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2734G>A (p.G912S) alteration is located in exon 10 (coding exon 10) of the BRD1 gene. This alteration results from a G to A substitution at nucleotide position 2734, causing the glycine (G) at amino acid position 912 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at