20-24971499-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_020531.3(APMAP):c.499G>A(p.Asp167Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000234 in 1,614,050 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_020531.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251484Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135914
GnomAD4 exome AF: 0.000246 AC: 360AN: 1461840Hom.: 0 Cov.: 30 AF XY: 0.000215 AC XY: 156AN XY: 727222
GnomAD4 genome AF: 0.000112 AC: 17AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.499G>A (p.D167N) alteration is located in exon 5 (coding exon 5) of the APMAP gene. This alteration results from a G to A substitution at nucleotide position 499, causing the aspartic acid (D) at amino acid position 167 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