rs758413724
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001007122.4(FSD2):c.1171C>T(p.Arg391*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000806 in 1,612,462 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001007122.4 stop_gained
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FSD2 | ENST00000334574.12 | c.1171C>T | p.Arg391* | stop_gained | Exon 7 of 13 | 1 | NM_001007122.4 | ENSP00000335651.8 | ||
FSD2 | ENST00000541889.1 | c.1171C>T | p.Arg391* | stop_gained | Exon 7 of 12 | 1 | ENSP00000444078.1 | |||
SNHG21 | ENST00000834480.1 | n.434+17385G>A | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152192Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000162 AC: 4AN: 246512 AF XY: 0.0000299 show subpopulations
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1460270Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726168 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74340 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at