NM_018667.4:c.1360G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018667.4(SMPD3):c.1360G>A(p.Val454Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00068 in 1,614,098 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018667.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000421 AC: 64AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000295 AC: 74AN: 250898Hom.: 0 AF XY: 0.000302 AC XY: 41AN XY: 135648
GnomAD4 exome AF: 0.000707 AC: 1033AN: 1461828Hom.: 0 Cov.: 35 AF XY: 0.000705 AC XY: 513AN XY: 727212
GnomAD4 genome AF: 0.000420 AC: 64AN: 152270Hom.: 0 Cov.: 33 AF XY: 0.000416 AC XY: 31AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1360G>A (p.V454I) alteration is located in exon 4 (coding exon 2) of the SMPD3 gene. This alteration results from a G to A substitution at nucleotide position 1360, causing the valine (V) at amino acid position 454 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