rs10521868
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_024503.3(FMR1-AS1):n.1186G>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0907 in 112,182 control chromosomes in the GnomAD database, including 392 homozygotes. There are 2,913 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NR_024503.3 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FMR1-AS1 | NR_024503.3 | n.1186G>T | non_coding_transcript_exon_variant | 2/2 | |||
FMR1-AS1 | NR_024499.3 | n.1832G>T | non_coding_transcript_exon_variant | 1/1 | |||
FMR1-AS1 | NR_024501.3 | n.1450G>T | non_coding_transcript_exon_variant | 2/2 | |||
FMR1-AS1 | NR_024502.3 | n.1290G>T | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FMR1-AS1 | ENST00000594922.5 | n.1450G>T | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
FMR1-AS1 | ENST00000596112.5 | n.1290G>T | non_coding_transcript_exon_variant | 3/3 | 1 | ||||
FMR1-AS1 | ENST00000598667.1 | n.1186G>T | non_coding_transcript_exon_variant | 2/2 | 1 | ||||
FMR1-AS1 | ENST00000601841.1 | n.1832G>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.0907 AC: 10174AN: 112131Hom.: 393 Cov.: 24 AF XY: 0.0847 AC XY: 2907AN XY: 34301
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 5Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 3
GnomAD4 genome ? AF: 0.0907 AC: 10179AN: 112182Hom.: 392 Cov.: 24 AF XY: 0.0848 AC XY: 2913AN XY: 34362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at