rs147528034
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004960.4(FUS):āc.636C>Gā(p.Asp212Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,611,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Synonymous variant affecting the same amino acid position (i.e. D212D) has been classified as Likely benign.
Frequency
Consequence
NM_004960.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUS | NM_004960.4 | c.636C>G | p.Asp212Glu | missense_variant | 6/15 | ENST00000254108.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUS | ENST00000254108.12 | c.636C>G | p.Asp212Glu | missense_variant | 6/15 | 1 | NM_004960.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151646Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460040Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726214
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151646Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74026
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at