2-64636280-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014755.3(SERTAD2):c.592G>A(p.Gly198Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000279 in 1,614,188 control chromosomes in the GnomAD database, including 1 homozygotes. 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_014755.3 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: 0.0000591 AC: 9AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 251286Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135872
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461880Hom.: 1 Cov.: 32 AF XY: 0.0000330 AC XY: 24AN XY: 727246
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.592G>A (p.G198R) alteration is located in exon 2 (coding exon 1) of the SERTAD2 gene. This alteration results from a G to A substitution at nucleotide position 592, causing the glycine (G) at amino acid position 198 to be replaced by an arginine (R). 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