19-2732990-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_144564.5(SLC39A3):c.706G>A(p.Val236Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000238 in 1,597,930 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144564.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC39A3 | ENST00000269740.9 | c.706G>A | p.Val236Ile | missense_variant | Exon 3 of 3 | 1 | NM_144564.5 | ENSP00000269740.3 | ||
ENSG00000267001 | ENST00000586572.1 | c.210+4058G>A | intron_variant | Intron 2 of 2 | 4 | ENSP00000467958.1 | ||||
SLC39A3 | ENST00000545664.5 | c.706G>A | p.Val236Ile | missense_variant | Exon 3 of 4 | 2 | ENSP00000445345.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152086Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000349 AC: 8AN: 229542Hom.: 0 AF XY: 0.0000237 AC XY: 3AN XY: 126514
GnomAD4 exome AF: 0.0000249 AC: 36AN: 1445844Hom.: 0 Cov.: 37 AF XY: 0.0000223 AC XY: 16AN XY: 717506
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152086Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.706G>A (p.V236I) alteration is located in exon 3 (coding exon 2) of the SLC39A3 gene. This alteration results from a G to A substitution at nucleotide position 706, causing the valine (V) at amino acid position 236 to be replaced by an isoleucine (I). 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