2-185791079-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_173651.4(FSIP2):āc.3943G>Cā(p.Glu1315Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000724 in 1,380,344 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_173651.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 | ENST00000424728.6 | c.3943G>C | p.Glu1315Gln | missense_variant | Exon 16 of 23 | 5 | NM_173651.4 | ENSP00000401306.1 | ||
FSIP2-AS1 | ENST00000429929.1 | n.73-2136C>G | intron_variant | Intron 1 of 2 | 3 | |||||
FSIP2-AS1 | ENST00000436557.5 | n.72-2136C>G | intron_variant | Intron 1 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.24e-7 AC: 1AN: 1380344Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 681082
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.