11-62516893-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001620.3(AHNAK):c.17524G>A(p.Asp5842Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000595 in 1,614,138 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001620.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251466Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135898
GnomAD4 exome AF: 0.0000561 AC: 82AN: 1461894Hom.: 1 Cov.: 54 AF XY: 0.0000536 AC XY: 39AN XY: 727248
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152244Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.17524G>A (p.D5842N) alteration is located in exon 5 (coding exon 3) of the AHNAK gene. This alteration results from a G to A substitution at nucleotide position 17524, causing the aspartic acid (D) at amino acid position 5842 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