20-45207409-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003007.5(SEMG1):c.112C>G(p.Gln38Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000807 in 1,610,942 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003007.5 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: 0.0000395 AC: 6AN: 152008Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000242 AC: 6AN: 247640Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133770
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1458934Hom.: 0 Cov.: 32 AF XY: 0.00000551 AC XY: 4AN XY: 725612
GnomAD4 genome AF: 0.0000395 AC: 6AN: 152008Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74248
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.112C>G (p.Q38E) alteration is located in exon 2 (coding exon 2) of the SEMG1 gene. This alteration results from a C to G substitution at nucleotide position 112, causing the glutamine (Q) at amino acid position 38 to be replaced by a glutamic acid (E). 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