rs13266634
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_173851.3(SLC30A8):c.973C>A(p.Arg325=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_173851.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC30A8 | NM_173851.3 | c.973C>A | p.Arg325= | synonymous_variant | 8/8 | ENST00000456015.7 | |
LOC105375716 | XR_007061067.1 | n.819+71G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC30A8 | ENST00000456015.7 | c.973C>A | p.Arg325= | synonymous_variant | 8/8 | 1 | NM_173851.3 | P1 | |
SLC30A8 | ENST00000519688.5 | c.826C>A | p.Arg276= | synonymous_variant | 9/9 | 1 | |||
SLC30A8 | ENST00000521243.5 | c.826C>A | p.Arg276= | synonymous_variant | 10/10 | 1 | |||
SLC30A8 | ENST00000427715.2 | c.826C>A | p.Arg276= | synonymous_variant | 11/11 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152056Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 41
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152056Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74262
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at