NM_032357.4:c.216-9G>A
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_032357.4(VMA22):c.216-9G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000503 in 1,610,578 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 Benign (★).
Frequency
Consequence
NM_032357.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152158Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000194 AC: 48AN: 246940 AF XY: 0.000208 show subpopulations
GnomAD4 exome AF: 0.0000507 AC: 74AN: 1458302Hom.: 0 Cov.: 31 AF XY: 0.0000662 AC XY: 48AN XY: 725458 show subpopulations
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152276Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74448 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:1
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CCDC115-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at