5-69116424-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022902.5(SLC30A5):c.1103G>C(p.Arg368Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,452,916 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022902.5 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 |
---|---|---|---|---|---|---|---|
SLC30A5 | NM_022902.5 | c.1103G>C | p.Arg368Thr | missense_variant | 10/16 | ENST00000396591.8 | |
SLC30A5 | XM_005248569.4 | c.980G>C | p.Arg327Thr | missense_variant | 9/15 | ||
SLC30A5 | XM_006714672.5 | c.1103G>C | p.Arg368Thr | missense_variant | 10/15 | ||
SLC30A5 | XM_017009749.2 | c.980G>C | p.Arg327Thr | missense_variant | 9/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC30A5 | ENST00000396591.8 | c.1103G>C | p.Arg368Thr | missense_variant | 10/16 | 1 | NM_022902.5 | P1 | |
SLC30A5 | ENST00000507354.5 | n.1301G>C | non_coding_transcript_exon_variant | 7/11 | 1 | ||||
ENST00000690195.2 | n.683-1022C>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000504129.1 | n.609-1022C>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1452916Hom.: 0 Cov.: 31 AF XY: 0.00000277 AC XY: 2AN XY: 722490
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 31, 2023 | The c.1103G>C (p.R368T) alteration is located in exon 10 (coding exon 10) of the SLC30A5 gene. This alteration results from a G to C substitution at nucleotide position 1103, causing the arginine (R) at amino acid position 368 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