11-418901-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001012302.3(ANO9):c.2023G>A(p.Val675Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000093 in 1,613,346 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001012302.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151970Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251250Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135832
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461376Hom.: 0 Cov.: 33 AF XY: 0.00000688 AC XY: 5AN XY: 726958
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151970Hom.: 0 Cov.: 33 AF XY: 0.0000539 AC XY: 4AN XY: 74222
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2023G>A (p.V675M) alteration is located in exon 21 (coding exon 21) of the ANO9 gene. This alteration results from a G to A substitution at nucleotide position 2023, causing the valine (V) at amino acid position 675 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at