20-63541486-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080823.4(SRMS):c.1081G>A(p.Gly361Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,608,170 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080823.4 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: 0.0000526 AC: 8AN: 152080Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000124 AC: 3AN: 241152Hom.: 0 AF XY: 0.00000758 AC XY: 1AN XY: 131908
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1456090Hom.: 0 Cov.: 34 AF XY: 0.0000138 AC XY: 10AN XY: 724498
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152080Hom.: 0 Cov.: 34 AF XY: 0.0000673 AC XY: 5AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1081G>A (p.G361S) alteration is located in exon 6 (coding exon 6) of the SRMS gene. This alteration results from a G to A substitution at nucleotide position 1081, causing the glycine (G) at amino acid position 361 to be replaced by a serine (S). 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