4-158859639-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_020840.3(FNIP2):c.1121G>A(p.Arg374His) variant causes a missense change. The variant allele was found at a frequency of 0.000545 in 1,613,310 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_020840.3 missense
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 |
---|---|---|---|---|---|---|---|---|---|---|
FNIP2 | ENST00000264433.11 | c.1121G>A | p.Arg374His | missense_variant | Exon 10 of 17 | 1 | NM_020840.3 | ENSP00000264433.6 | ||
FNIP2 | ENST00000512986.5 | c.1190G>A | p.Arg397His | missense_variant | Exon 10 of 13 | 1 | ENSP00000421488.1 | |||
FNIP2 | ENST00000504715.1 | c.716G>A | p.Arg239His | missense_variant | Exon 7 of 7 | 5 | ENSP00000420841.1 |
Frequencies
GnomAD3 genomes AF: 0.000427 AC: 65AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000427 AC: 106AN: 248260Hom.: 0 AF XY: 0.000453 AC XY: 61AN XY: 134650
GnomAD4 exome AF: 0.000558 AC: 815AN: 1461072Hom.: 0 Cov.: 31 AF XY: 0.000523 AC XY: 380AN XY: 726774
GnomAD4 genome AF: 0.000427 AC: 65AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.000524 AC XY: 39AN XY: 74430
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1121G>A (p.R374H) alteration is located in exon 10 (coding exon 10) of the FNIP2 gene. This alteration results from a G to A substitution at nucleotide position 1121, causing the arginine (R) at amino acid position 374 to be replaced by a histidine (H). 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