11-65376970-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182556.4(SLC25A45):c.446A>G(p.His149Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000924 in 1,613,146 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182556.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000198 AC: 49AN: 247280Hom.: 1 AF XY: 0.000179 AC XY: 24AN XY: 134292
GnomAD4 exome AF: 0.0000924 AC: 135AN: 1460970Hom.: 1 Cov.: 33 AF XY: 0.0000936 AC XY: 68AN XY: 726784
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.446A>G (p.H149R) alteration is located in exon 6 (coding exon 5) of the SLC25A45 gene. This alteration results from a A to G substitution at nucleotide position 446, causing the histidine (H) at amino acid position 149 to be replaced by an arginine (R). 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