8-117172544-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_173851.3(SLC30A8):c.973C>T(p.Arg325Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.296 in 1,613,268 control chromosomes in the GnomAD database, including 73,380 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R325Q) has been classified as Benign.
Frequency
Consequence
NM_173851.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC30A8 | NM_173851.3 | c.973C>T | p.Arg325Trp | missense_variant | 8/8 | ENST00000456015.7 | |
LOC105375716 | XR_007061067.1 | n.819+71G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC30A8 | ENST00000456015.7 | c.973C>T | p.Arg325Trp | missense_variant | 8/8 | 1 | NM_173851.3 | P1 | |
SLC30A8 | ENST00000519688.5 | c.826C>T | p.Arg276Trp | missense_variant | 9/9 | 1 | |||
SLC30A8 | ENST00000521243.5 | c.826C>T | p.Arg276Trp | missense_variant | 10/10 | 1 | |||
SLC30A8 | ENST00000427715.2 | c.826C>T | p.Arg276Trp | missense_variant | 11/11 | 2 |
Frequencies
GnomAD3 genomes AF: 0.248 AC: 37664AN: 152022Hom.: 5578 Cov.: 33
GnomAD3 exomes AF: 0.288 AC: 71769AN: 249394Hom.: 11185 AF XY: 0.287 AC XY: 38728AN XY: 134924
GnomAD4 exome AF: 0.301 AC: 439230AN: 1461128Hom.: 67800 Cov.: 41 AF XY: 0.300 AC XY: 217715AN XY: 726894
GnomAD4 genome AF: 0.248 AC: 37676AN: 152140Hom.: 5580 Cov.: 33 AF XY: 0.253 AC XY: 18802AN XY: 74370
ClinVar
Submissions by phenotype
SLC30A8-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 21, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Diabetes mellitus type 2, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Jun 01, 2007 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at