15-82762190-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001007122.4(FSD2):c.1909G>C(p.Gly637Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,613,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001007122.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FSD2 | ENST00000334574.12 | c.1909G>C | p.Gly637Arg | missense_variant | Exon 12 of 13 | 1 | NM_001007122.4 | ENSP00000335651.8 | ||
FSD2 | ENST00000541889.1 | c.1774G>C | p.Gly592Arg | missense_variant | Exon 11 of 12 | 1 | ENSP00000444078.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248726Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134950
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461508Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727008
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1909G>C (p.G637R) alteration is located in exon 12 (coding exon 11) of the FSD2 gene. This alteration results from a G to C substitution at nucleotide position 1909, causing the glycine (G) at amino acid position 637 to be replaced by an arginine (R). 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