10-100972959-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017893.4(SEMA4G):c.47C>A(p.Thr16Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,613,602 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017893.4 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: 0.00000657 AC: 1AN: 152188Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250756Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135560
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461296Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726958
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152306Hom.: 1 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.47C>A (p.T16N) alteration is located in exon 1 (coding exon 1) of the SEMA4G gene. This alteration results from a C to A substitution at nucleotide position 47, causing the threonine (T) at amino acid position 16 to be replaced by an asparagine (N). 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