rs147595334
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_000033.4(ABCD1):c.696G>A(p.Ala232Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,209,455 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 14 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000033.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCD1 | NM_000033.4 | c.696G>A | p.Ala232Ala | synonymous_variant | Exon 1 of 10 | ENST00000218104.6 | NP_000024.2 | |
ABCD1 | XM_047441916.1 | c.696G>A | p.Ala232Ala | synonymous_variant | Exon 1 of 11 | XP_047297872.1 | ||
ABCD1 | XM_047441917.1 | c.696G>A | p.Ala232Ala | synonymous_variant | Exon 1 of 8 | XP_047297873.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 3AN: 113688Hom.: 0 Cov.: 26 AF XY: 0.0000279 AC XY: 1AN XY: 35810
GnomAD3 exomes AF: 0.0000335 AC: 6AN: 179362Hom.: 0 AF XY: 0.0000305 AC XY: 2AN XY: 65646
GnomAD4 exome AF: 0.0000274 AC: 30AN: 1095767Hom.: 0 Cov.: 32 AF XY: 0.0000359 AC XY: 13AN XY: 362221
GnomAD4 genome AF: 0.0000264 AC: 3AN: 113688Hom.: 0 Cov.: 26 AF XY: 0.0000279 AC XY: 1AN XY: 35810
ClinVar
Submissions by phenotype
Adrenoleukodystrophy Benign:2
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at