16-58672166-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_018231.3(SLC38A7):c.961G>A(p.Val321Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000191 in 1,567,836 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018231.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151940Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000335 AC: 6AN: 178870Hom.: 0 AF XY: 0.0000316 AC XY: 3AN XY: 94916
GnomAD4 exome AF: 0.0000205 AC: 29AN: 1415896Hom.: 0 Cov.: 31 AF XY: 0.0000186 AC XY: 13AN XY: 699966
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151940Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74204
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.961G>A (p.V321M) alteration is located in exon 9 (coding exon 7) of the SLC38A7 gene. This alteration results from a G to A substitution at nucleotide position 961, causing the valine (V) at amino acid position 321 to be replaced by a methionine (M). 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