12-111644218-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006768.5(BRAP):c.1760G>A(p.Arg587His) variant causes a missense change. The variant allele was found at a frequency of 0.0000428 in 1,611,642 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006768.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BRAP | ENST00000419234.9 | c.1760G>A | p.Arg587His | missense_variant | Exon 12 of 12 | 1 | NM_006768.5 | ENSP00000403524.3 | ||
BRAP | ENST00000327551.6 | c.1670G>A | p.Arg557His | missense_variant | Exon 12 of 12 | 1 | ENSP00000330813.5 | |||
BRAP | ENST00000547043.1 | n.*121G>A | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152198Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000100 AC: 25AN: 250018Hom.: 0 AF XY: 0.000126 AC XY: 17AN XY: 135226
GnomAD4 exome AF: 0.0000439 AC: 64AN: 1459444Hom.: 0 Cov.: 31 AF XY: 0.0000413 AC XY: 30AN XY: 726072
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152198Hom.: 0 Cov.: 31 AF XY: 0.0000403 AC XY: 3AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1760G>A (p.R587H) alteration is located in exon 12 (coding exon 12) of the BRAP gene. This alteration results from a G to A substitution at nucleotide position 1760, causing the arginine (R) at amino acid position 587 to be replaced by a histidine (H). 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