4-158904486-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_020840.3(FNIP2):c.3287C>T(p.Pro1096Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020840.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FNIP2 | ENST00000264433.11 | c.3287C>T | p.Pro1096Leu | missense_variant | Exon 17 of 17 | 1 | NM_020840.3 | ENSP00000264433.6 | ||
C4orf45 | ENST00000434826.3 | c.546+10684G>A | intron_variant | Intron 4 of 4 | 2 | NM_152543.3 | ENSP00000412215.2 | |||
C4orf45 | ENST00000508011.1 | n.582+10684G>A | intron_variant | Intron 3 of 3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3287C>T (p.P1096L) alteration is located in exon 17 (coding exon 17) of the FNIP2 gene. This alteration results from a C to T substitution at nucleotide position 3287, causing the proline (P) at amino acid position 1096 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.