rs368721486
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_025129.5(FUZ):c.851G>T(p.Arg284Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000387 in 1,577,126 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R284P) has been classified as Likely benign.
Frequency
Consequence
NM_025129.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUZ | NM_025129.5 | c.851G>T | p.Arg284Leu | missense_variant | 8/11 | ENST00000313777.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUZ | ENST00000313777.9 | c.851G>T | p.Arg284Leu | missense_variant | 8/11 | 1 | NM_025129.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000107 AC: 2AN: 186816Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 100720
GnomAD4 exome AF: 0.0000400 AC: 57AN: 1424784Hom.: 0 Cov.: 33 AF XY: 0.0000368 AC XY: 26AN XY: 705628
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152342Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74500
ClinVar
Submissions by phenotype
Jeune thoracic dystrophy Pathogenic:1Uncertain:1
Uncertain significance, no assertion criteria provided | research | Dan Cohn Lab, University Of California Los Angeles | Jun 01, 2017 | - - |
Likely pathogenic, no assertion criteria provided | research | University of Washington Center for Mendelian Genomics, University of Washington | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at