8-23571667-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016612.4(SLC25A37):c.829G>C(p.Gly277Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000415 in 1,613,808 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★). Synonymous variant affecting the same amino acid position (i.e. G277G) has been classified as Benign.
Frequency
Consequence
NM_016612.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC25A37 | NM_016612.4 | c.829G>C | p.Gly277Arg | missense_variant | 4/4 | ENST00000519973.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A37 | ENST00000519973.6 | c.829G>C | p.Gly277Arg | missense_variant | 4/4 | 1 | NM_016612.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000482 AC: 12AN: 248784Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135090
GnomAD4 exome AF: 0.0000417 AC: 61AN: 1461644Hom.: 0 Cov.: 32 AF XY: 0.0000426 AC XY: 31AN XY: 727114
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2022 | The c.829G>C (p.G277R) alteration is located in exon 4 (coding exon 4) of the SLC25A37 gene. This alteration results from a G to C substitution at nucleotide position 829, causing the glycine (G) at amino acid position 277 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