20-45207727-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003007.5(SEMG1):c.430C>G(p.Gln144Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,613,940 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251212Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135774
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461674Hom.: 0 Cov.: 33 AF XY: 0.0000303 AC XY: 22AN XY: 727132
GnomAD4 genome AF: 0.000112 AC: 17AN: 152266Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.430C>G (p.Q144E) 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 430, causing the glutamine (Q) at amino acid position 144 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