X-136490248-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001727.2(BRS3):āc.550A>Gā(p.Ile184Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000169 in 1,209,638 control chromosomes in the GnomAD database, including 1 homozygotes. There are 58 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001727.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRS3 | NM_001727.2 | c.550A>G | p.Ile184Val | missense_variant | 2/3 | ENST00000370648.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRS3 | ENST00000370648.4 | c.550A>G | p.Ile184Val | missense_variant | 2/3 | 1 | NM_001727.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000534 AC: 6AN: 112440Hom.: 0 Cov.: 23 AF XY: 0.0000578 AC XY: 2AN XY: 34584
GnomAD3 exomes AF: 0.0000327 AC: 6AN: 183336Hom.: 0 AF XY: 0.0000295 AC XY: 2AN XY: 67798
GnomAD4 exome AF: 0.000180 AC: 198AN: 1097198Hom.: 1 Cov.: 30 AF XY: 0.000154 AC XY: 56AN XY: 362584
GnomAD4 genome AF: 0.0000534 AC: 6AN: 112440Hom.: 0 Cov.: 23 AF XY: 0.0000578 AC XY: 2AN XY: 34584
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at