NM_001145128.3:c.5329T>A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001145128.3(AK9):c.5329T>A(p.Tyr1777Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000958 in 1,460,708 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 Uncertain significance (★).
Frequency
Consequence
NM_001145128.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000280 AC: 7AN: 249890Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135120
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1460708Hom.: 0 Cov.: 30 AF XY: 0.0000138 AC XY: 10AN XY: 726680
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5329T>A (p.Y1777N) alteration is located in exon 39 (coding exon 38) of the AK9 gene. This alteration results from a T to A substitution at nucleotide position 5329, causing the tyrosine (Y) at amino acid position 1777 to be replaced by an asparagine (N). 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