8-23529127-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016612.4(SLC25A37):āc.125G>Cā(p.Ser42Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,611,394 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S42G) has been classified as Uncertain significance.
Frequency
Consequence
NM_016612.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.125G>C | p.Ser42Thr | missense_variant | 1/4 | ENST00000519973.6 | |
SLC25A37 | NM_001317812.2 | c.-806G>C | 5_prime_UTR_variant | 1/4 | |||
SLC25A37 | NM_001317813.2 | c.-216G>C | 5_prime_UTR_variant | 1/5 | |||
SLC25A37 | NM_001317814.2 | c.-163G>C | 5_prime_UTR_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A37 | ENST00000519973.6 | c.125G>C | p.Ser42Thr | missense_variant | 1/4 | 1 | NM_016612.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000125 AC: 3AN: 239802Hom.: 0 AF XY: 0.00000761 AC XY: 1AN XY: 131440
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1459184Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 725868
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 21, 2022 | The c.125G>C (p.S42T) alteration is located in exon 1 (coding exon 1) of the SLC25A37 gene. This alteration results from a G to C substitution at nucleotide position 125, causing the serine (S) at amino acid position 42 to be replaced by a threonine (T). 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