rs1423891578
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_173651.4(FSIP2):c.-38G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000249 in 1,528,746 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173651.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FSIP2 | ENST00000424728 | c.-38G>A | 5_prime_UTR_variant | Exon 1 of 23 | 5 | NM_173651.4 | ENSP00000401306.1 | |||
FSIP2-AS2 | ENST00000427269.2 | n.101+1522C>T | intron_variant | Intron 1 of 2 | 5 | |||||
FSIP2-AS2 | ENST00000437717.1 | n.119+50C>T | intron_variant | Intron 1 of 2 | 3 | |||||
FSIP2-AS1 | ENST00000667756.1 | n.37+49909C>T | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.00000688 AC: 1AN: 145434Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000155 AC: 2AN: 129424Hom.: 0 AF XY: 0.0000283 AC XY: 2AN XY: 70712
GnomAD4 exome AF: 0.0000267 AC: 37AN: 1383312Hom.: 0 Cov.: 31 AF XY: 0.0000205 AC XY: 14AN XY: 682632
GnomAD4 genome AF: 0.00000688 AC: 1AN: 145434Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 71098
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.230G>A (p.G77E) alteration is located in exon 1 (coding exon 1) of the FSIP2 gene. This alteration results from a G to A substitution at nucleotide position 230, causing the glycine (G) at amino acid position 77 to be replaced by a glutamic acid (E). 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