rs372374523
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PP3_ModerateBS1_SupportingBS2
The NM_153252.5(BRWD3):āc.3324A>Gā(p.Gly1108=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000183 in 1,202,852 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 9 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_153252.5 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRWD3 | NM_153252.5 | c.3324A>G | p.Gly1108= | splice_region_variant, synonymous_variant | 29/41 | ENST00000373275.5 | |
BRWD3 | XM_005262113.4 | c.3174A>G | p.Gly1058= | splice_region_variant, synonymous_variant | 28/40 | ||
BRWD3 | XM_017029384.2 | c.2112A>G | p.Gly704= | splice_region_variant, synonymous_variant | 18/30 | ||
BRWD3 | XM_047441957.1 | c.3324A>G | p.Gly1108= | splice_region_variant, synonymous_variant | 29/38 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRWD3 | ENST00000373275.5 | c.3324A>G | p.Gly1108= | splice_region_variant, synonymous_variant | 29/41 | 1 | NM_153252.5 | P1 | |
BRWD3 | ENST00000473691.1 | n.1460A>G | splice_region_variant, non_coding_transcript_exon_variant | 13/25 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000893 AC: 1AN: 111929Hom.: 0 Cov.: 22 AF XY: 0.0000293 AC XY: 1AN XY: 34083
GnomAD3 exomes AF: 0.0000219 AC: 4AN: 182392Hom.: 0 AF XY: 0.0000297 AC XY: 2AN XY: 67322
GnomAD4 exome AF: 0.0000192 AC: 21AN: 1090923Hom.: 0 Cov.: 30 AF XY: 0.0000224 AC XY: 8AN XY: 357543
GnomAD4 genome AF: 0.00000893 AC: 1AN: 111929Hom.: 0 Cov.: 22 AF XY: 0.0000293 AC XY: 1AN XY: 34083
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | May 29, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at