8-93709810-C-T
Variant summary
Our verdict is Pathogenic. Variant got 18 ACMG points: 18P and 0B. PVS1PM2PP5_Very_Strong
The NM_145269.5(CIBAR1):c.478C>T(p.Arg160*) variant causes a stop gained change. The variant allele was found at a frequency of 0.00000806 in 1,612,954 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_145269.5 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151742Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248568Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134804
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461212Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 8AN XY: 726826
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151742Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74078
ClinVar
Submissions by phenotype
Polydactyly, postaxial, type A9 Pathogenic:3
This variant was identified as homozygous._x000D_ Criteria applied: PVS1, PM3, PM2_SUP -
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Postaxial polydactyly type A Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at