12-39554057-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_005164.4(ABCD2):c.2078G>A(p.Arg693His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000818 in 1,613,540 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_005164.4 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 AF: 0.000184 AC: 28AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000877 AC: 22AN: 250906Hom.: 0 AF XY: 0.0000811 AC XY: 11AN XY: 135586
GnomAD4 exome AF: 0.0000712 AC: 104AN: 1461442Hom.: 0 Cov.: 31 AF XY: 0.0000715 AC XY: 52AN XY: 727014
GnomAD4 genome AF: 0.000184 AC: 28AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 12AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2078G>A (p.R693H) alteration is located in exon 10 (coding exon 10) of the ABCD2 gene. This alteration results from a G to A substitution at nucleotide position 2078, causing the arginine (R) at amino acid position 693 to be replaced by a histidine (H). 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