1-94418558-A-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_002858.4(ABCD3):c.80A>T(p.His27Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000399 in 1,603,076 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002858.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCD3 | NM_002858.4 | c.80A>T | p.His27Leu | missense_variant | 1/23 | ENST00000370214.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCD3 | ENST00000370214.9 | c.80A>T | p.His27Leu | missense_variant | 1/23 | 1 | NM_002858.4 | P3 | |
ABCD3 | ENST00000315713.5 | c.80A>T | p.His27Leu | missense_variant | 1/9 | 1 | |||
ABCD3 | ENST00000647998.2 | c.80A>T | p.His27Leu | missense_variant | 1/23 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152062Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000865 AC: 2AN: 231224Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 127268
GnomAD4 exome AF: 0.0000358 AC: 52AN: 1450898Hom.: 1 Cov.: 31 AF XY: 0.0000319 AC XY: 23AN XY: 722098
GnomAD4 genome ? AF: 0.0000789 AC: 12AN: 152178Hom.: 2 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74396
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Oct 26, 2023 | This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 27 of the ABCD3 protein (p.His27Leu). This variant is present in population databases (rs554914466, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ABCD3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at