chrX-136490368-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001727.2(BRS3):c.670G>T(p.Val224Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000731 in 1,094,452 control chromosomes in the GnomAD database, including 1 homozygotes. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 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. V224G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001727.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRS3 | NM_001727.2 | c.670G>T | p.Val224Leu | missense_variant | 2/3 | ENST00000370648.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRS3 | ENST00000370648.4 | c.670G>T | p.Val224Leu | missense_variant | 2/3 | 1 | NM_001727.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.0000384 AC: 7AN: 182142Hom.: 1 AF XY: 0.00 AC XY: 0AN XY: 66994
GnomAD4 exome AF: 0.00000731 AC: 8AN: 1094452Hom.: 1 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 360050
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 22, 2022 | The c.670G>T (p.V224L) alteration is located in exon 2 (coding exon 2) of the BRS3 gene. This alteration results from a G to T substitution at nucleotide position 670, causing the valine (V) at amino acid position 224 to be replaced by a leucine (L). 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