2-32193953-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001330477.2(SLC30A6):c.-152C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000415 in 1,613,090 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001330477.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152052Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000638 AC: 16AN: 250930Hom.: 0 AF XY: 0.0000885 AC XY: 12AN XY: 135632
GnomAD4 exome AF: 0.0000397 AC: 58AN: 1460920Hom.: 0 Cov.: 30 AF XY: 0.0000509 AC XY: 37AN XY: 726772
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152170Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74402
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.586C>T (p.R196W) alteration is located in exon 9 (coding exon 9) of the SLC30A6 gene. This alteration results from a C to T substitution at nucleotide position 586, causing the arginine (R) at amino acid position 196 to be replaced by a tryptophan (W). 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