chr14-58427649-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The ENST00000619416.4(KIAA0586):c.-39+12G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000217 in 1,383,368 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000619416.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIAA0586 | NM_001244189.2 | c.9+12G>C | intron_variant | ||||
KIAA0586 | NM_001244190.2 | c.-39+12G>C | intron_variant | ||||
KIAA0586 | NM_001244191.2 | c.-57+12G>C | intron_variant | ||||
KIAA0586 | NM_001244192.2 | c.-57+12G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA0586 | ENST00000423743.7 | c.-57+12G>C | intron_variant | 1 | |||||
KIAA0586 | ENST00000619416.4 | c.-39+12G>C | intron_variant | 1 | A2 | ||||
KIAA0586 | ENST00000354386.10 | c.9+12G>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000217 AC: 3AN: 1383368Hom.: 0 Cov.: 30 AF XY: 0.00000147 AC XY: 1AN XY: 682582
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Joubert syndrome 23;C4225286:Short-rib thoracic dysplasia 14 with polydactyly Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 26, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.