8-103414876-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030780.5(SLC25A32):c.62T>G(p.Val21Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,460,984 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. V21V) has been classified as Likely benign.
Frequency
Consequence
NM_030780.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC25A32 | NM_030780.5 | c.62T>G | p.Val21Gly | missense_variant | 1/7 | ENST00000297578.9 | |
SLC25A32 | NR_102337.2 | n.232T>G | non_coding_transcript_exon_variant | 1/6 | |||
SLC25A32 | NR_102338.2 | n.232T>G | non_coding_transcript_exon_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A32 | ENST00000297578.9 | c.62T>G | p.Val21Gly | missense_variant | 1/7 | 1 | NM_030780.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1460984Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726782
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 28, 2023 | The c.62T>G (p.V21G) alteration is located in exon 1 (coding exon 1) of the SLC25A32 gene. This alteration results from a T to G substitution at nucleotide position 62, causing the valine (V) at amino acid position 21 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.