12-39586224-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_005164.4(ABCD2):c.1720G>A(p.Gly574Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000397 in 1,613,528 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: 0.000263 AC: 40AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 250958Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135654
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461248Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726936
GnomAD4 genome AF: 0.000276 AC: 42AN: 152280Hom.: 0 Cov.: 32 AF XY: 0.000376 AC XY: 28AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1720G>A (p.G574S) alteration is located in exon 7 (coding exon 7) of the ABCD2 gene. This alteration results from a G to A substitution at nucleotide position 1720, causing the glycine (G) at amino acid position 574 to be replaced by a serine (S). 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