chr17-45846317-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_175882.3(SPPL2C):āc.1411A>Gā(p.Ile471Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.189 in 1,613,976 control chromosomes in the GnomAD database, including 32,784 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_175882.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.144 AC: 21854AN: 152070Hom.: 2144 Cov.: 33
GnomAD3 exomes AF: 0.145 AC: 36513AN: 251412Hom.: 3543 AF XY: 0.149 AC XY: 20203AN XY: 135878
GnomAD4 exome AF: 0.193 AC: 282745AN: 1461788Hom.: 30642 Cov.: 108 AF XY: 0.191 AC XY: 138904AN XY: 727196
GnomAD4 genome AF: 0.144 AC: 21844AN: 152188Hom.: 2142 Cov.: 33 AF XY: 0.134 AC XY: 9998AN XY: 74410
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at