rs797045419
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_153252.5(BRWD3):āc.3690A>Gā(p.Ala1230=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,095,491 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_153252.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRWD3 | NM_153252.5 | c.3690A>G | p.Ala1230= | synonymous_variant | 32/41 | ENST00000373275.5 | |
BRWD3 | XM_005262113.4 | c.3540A>G | p.Ala1180= | synonymous_variant | 31/40 | ||
BRWD3 | XM_017029384.2 | c.2478A>G | p.Ala826= | synonymous_variant | 21/30 | ||
BRWD3 | XM_047441957.1 | c.3690A>G | p.Ala1230= | synonymous_variant | 32/38 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRWD3 | ENST00000373275.5 | c.3690A>G | p.Ala1230= | synonymous_variant | 32/41 | 1 | NM_153252.5 | P1 | |
BRWD3 | ENST00000473691.1 | n.1826A>G | non_coding_transcript_exon_variant | 16/25 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 22
GnomAD3 exomes AF: 0.0000110 AC: 2AN: 182604Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67292
GnomAD4 exome AF: 0.00000274 AC: 3AN: 1095491Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 361387
GnomAD4 genome ? Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Dec 17, 2014 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 24, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at