2-69496027-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_014911.5(AAK1):c.2323G>A(p.Val775Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000164 in 1,402,618 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 Uncertain significance (★).
Frequency
Consequence
NM_014911.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000122 AC: 2AN: 163302Hom.: 0 AF XY: 0.0000116 AC XY: 1AN XY: 86094
GnomAD4 exome AF: 0.0000164 AC: 23AN: 1402618Hom.: 0 Cov.: 30 AF XY: 0.0000231 AC XY: 16AN XY: 692126
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2323G>A (p.V775M) alteration is located in exon 17 (coding exon 16) of the AAK1 gene. This alteration results from a G to A substitution at nucleotide position 2323, causing the valine (V) at amino acid position 775 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