chrX-153743667-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM1BP4_Moderate
The NM_000033.4(ABCD1):c.2170G>A(p.Val724Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000511 in 1,174,414 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000033.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000178 AC: 2AN: 112104Hom.: 0 Cov.: 24 show subpopulations
GnomAD2 exomes AF: 0.0000166 AC: 2AN: 120251 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000377 AC: 4AN: 1062310Hom.: 0 Cov.: 37 AF XY: 0.00 AC XY: 0AN XY: 344676 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000178 AC: 2AN: 112104Hom.: 0 Cov.: 24 AF XY: 0.0000292 AC XY: 1AN XY: 34292 show subpopulations ⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at