rs12237222
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000416473.2(FRMD3-AS1):n.77+451G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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
Genomes: not found (cov: 34)
Consequence
FRMD3-AS1
ENST00000416473.2 intron
ENST00000416473.2 intron
Scores
1
1
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.10
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.35).
Transcripts
RefSeq
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| FRMD3-AS1 | ENST00000416473.2 | n.77+451G>A | intron_variant | Intron 1 of 2 | 2 | |||||
| FRMD3-AS1 | ENST00000662757.1 | n.90+451G>A | intron_variant | Intron 1 of 1 | ||||||
| FRMD3-AS1 | ENST00000665291.1 | n.47+451G>A | intron_variant | Intron 1 of 1 | ||||||
| FRMD3-AS1 | ENST00000668931.1 | n.43+451G>A | intron_variant | Intron 1 of 2 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
34
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
GnomAD4 genome
Cov.:
34
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at