rs41312124
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001256789.3(CACNA1F):c.2673+3G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000914 in 1,094,481 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001256789.3 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1F | ENST00000323022.10 | c.2673+3G>T | splice_region_variant, intron_variant | Intron 21 of 47 | 1 | NM_001256789.3 | ENSP00000321618.6 | |||
CACNA1F | ENST00000376265.2 | c.2706+3G>T | splice_region_variant, intron_variant | Intron 21 of 47 | 1 | ENSP00000365441.2 | ||||
CACNA1F | ENST00000376251.5 | c.2511+3G>T | splice_region_variant, intron_variant | Intron 21 of 47 | 1 | ENSP00000365427.1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 9.14e-7 AC: 1AN: 1094481Hom.: 0 Cov.: 33 AF XY: 0.00000277 AC XY: 1AN XY: 360531
GnomAD4 genome Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.