rs12010481
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_152578.3(FMR1NB):c.633-5482T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.184 in 111,965 control chromosomes in the GnomAD database, including 2,344 homozygotes. There are 5,735 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
NM_152578.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FMR1NB | NM_152578.3 | c.633-5482T>C | intron_variant | ENST00000370467.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FMR1NB | ENST00000370467.8 | c.633-5482T>C | intron_variant | 1 | NM_152578.3 | P1 | |||
FMR1NB | ENST00000489034.2 | c.122-5482T>C | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.184 AC: 20562AN: 111912Hom.: 2344 Cov.: 23 AF XY: 0.167 AC XY: 5710AN XY: 34104
GnomAD4 genome ? AF: 0.184 AC: 20581AN: 111965Hom.: 2344 Cov.: 23 AF XY: 0.168 AC XY: 5735AN XY: 34167
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at