chr2-69479028-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_014911.5(AAK1):c.2603G>A(p.Cys868Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000521 in 1,613,770 control chromosomes in the GnomAD database, including 1 homozygotes. 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_014911.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000116 AC: 29AN: 248990Hom.: 1 AF XY: 0.000155 AC XY: 21AN XY: 135066
GnomAD4 exome AF: 0.0000568 AC: 83AN: 1461500Hom.: 1 Cov.: 30 AF XY: 0.0000949 AC XY: 69AN XY: 727044
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2603G>A (p.C868Y) alteration is located in exon 20 (coding exon 19) of the AAK1 gene. This alteration results from a G to A substitution at nucleotide position 2603, causing the cysteine (C) at amino acid position 868 to be replaced by a tyrosine (Y). 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