NM_012280.4:c.270G>T
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_012280.4(FTSJ1):c.270G>T(p.Gly90Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00108 in 1,193,698 control chromosomes in the GnomAD database, including 2 homozygotes. There are 426 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_012280.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FTSJ1 | NM_012280.4 | c.270G>T | p.Gly90Gly | synonymous_variant | Exon 4 of 13 | ENST00000348411.3 | NP_036412.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00262 AC: 295AN: 112399Hom.: 1 Cov.: 23 AF XY: 0.00246 AC XY: 85AN XY: 34561
GnomAD3 exomes AF: 0.00137 AC: 240AN: 174682Hom.: 0 AF XY: 0.00106 AC XY: 64AN XY: 60272
GnomAD4 exome AF: 0.000927 AC: 1002AN: 1081248Hom.: 1 Cov.: 29 AF XY: 0.000986 AC XY: 343AN XY: 347790
GnomAD4 genome AF: 0.00261 AC: 293AN: 112450Hom.: 1 Cov.: 23 AF XY: 0.00240 AC XY: 83AN XY: 34622
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
not specified Benign:1
- -
Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at