rs2070991
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_012280.4(FTSJ1):c.572-35C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.225 in 1,146,737 control chromosomes in the GnomAD database, including 21,056 homozygotes. There are 82,322 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_012280.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FTSJ1 | NM_012280.4 | c.572-35C>T | intron_variant | ENST00000348411.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FTSJ1 | ENST00000348411.3 | c.572-35C>T | intron_variant | 1 | NM_012280.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.231 AC: 25860AN: 111801Hom.: 2304 Cov.: 23 AF XY: 0.229 AC XY: 7778AN XY: 34027
GnomAD3 exomes AF: 0.263 AC: 47020AN: 179091Hom.: 4679 AF XY: 0.257 AC XY: 16468AN XY: 63981
GnomAD4 exome AF: 0.224 AC: 232085AN: 1034885Hom.: 18754 Cov.: 25 AF XY: 0.237 AC XY: 74533AN XY: 314697
GnomAD4 genome ? AF: 0.231 AC: 25860AN: 111852Hom.: 2302 Cov.: 23 AF XY: 0.228 AC XY: 7789AN XY: 34088
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 19, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at