rs782099600
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000348411.3(FTSJ1):āc.187A>Gā(p.Ile63Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,207,955 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I63M) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000348411.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FTSJ1 | NM_012280.4 | c.187A>G | p.Ile63Val | missense_variant | 3/13 | ENST00000348411.3 | NP_036412.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FTSJ1 | ENST00000348411.3 | c.187A>G | p.Ile63Val | missense_variant | 3/13 | 1 | NM_012280.4 | ENSP00000326948 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000805 AC: 9AN: 111761Hom.: 0 Cov.: 23 AF XY: 0.0000884 AC XY: 3AN XY: 33951
GnomAD3 exomes AF: 0.0000165 AC: 3AN: 181781Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67033
GnomAD4 exome AF: 0.00000547 AC: 6AN: 1096194Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 1AN XY: 361710
GnomAD4 genome AF: 0.0000805 AC: 9AN: 111761Hom.: 0 Cov.: 23 AF XY: 0.0000884 AC XY: 3AN XY: 33951
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 22, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at