17-44320041-A-C
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PP3_Moderate
The NM_001143780.3(SLC25A39):c.1040T>G(p.Phe347Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000266 in 1,613,832 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_001143780.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152036Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000756 AC: 19AN: 251392 AF XY: 0.0000662 show subpopulations
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461796Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 727212 show subpopulations
GnomAD4 genome AF: 0.000105 AC: 16AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.0000943 AC XY: 7AN XY: 74256 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1040T>G (p.F347C) alteration is located in exon 12 (coding exon 11) of the SLC25A39 gene. This alteration results from a T to G substitution at nucleotide position 1040, causing the phenylalanine (F) at amino acid position 347 to be replaced by a cysteine (C). 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