10-68483526-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152707.4(SLC25A16):c.905G>A(p.Arg302His) variant causes a missense change. The variant allele was found at a frequency of 0.0000689 in 1,611,626 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152707.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC25A16 | ENST00000609923.6 | c.905G>A | p.Arg302His | missense_variant | Exon 9 of 9 | 1 | NM_152707.4 | ENSP00000476815.1 | ||
SLC25A16 | ENST00000493963.5 | n.*833G>A | non_coding_transcript_exon_variant | Exon 10 of 10 | 1 | ENSP00000476283.1 | ||||
SLC25A16 | ENST00000493963.5 | n.*833G>A | 3_prime_UTR_variant | Exon 10 of 10 | 1 | ENSP00000476283.1 | ||||
SLC25A16 | ENST00000265870.7 | n.1788G>A | non_coding_transcript_exon_variant | Exon 8 of 8 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000355 AC: 54AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000132 AC: 33AN: 250380Hom.: 0 AF XY: 0.0000961 AC XY: 13AN XY: 135296
GnomAD4 exome AF: 0.0000391 AC: 57AN: 1459464Hom.: 0 Cov.: 29 AF XY: 0.0000317 AC XY: 23AN XY: 725970
GnomAD4 genome AF: 0.000355 AC: 54AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.000471 AC XY: 35AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.905G>A (p.R302H) alteration is located in exon 9 (coding exon 9) of the SLC25A16 gene. This alteration results from a G to A substitution at nucleotide position 905, causing the arginine (R) at amino acid position 302 to be replaced by a histidine (H). 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