NM_001030019.2:c.847G>C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001030019.2(SUN3):c.847G>C(p.Glu283Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000949 in 1,612,848 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001030019.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000280 AC: 7AN: 249992Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135156
GnomAD4 exome AF: 0.000101 AC: 147AN: 1460728Hom.: 0 Cov.: 30 AF XY: 0.000102 AC XY: 74AN XY: 726666
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.847G>C (p.E283Q) alteration is located in exon 8 (coding exon 8) of the SUN3 gene. This alteration results from a G to C substitution at nucleotide position 847, causing the glutamic acid (E) at amino acid position 283 to be replaced by a glutamine (Q). 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