19-2757762-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003021.4(SGTA):c.758G>A(p.Gly253Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00000936 in 1,602,626 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003021.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000433 AC: 1AN: 230958Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 124822
GnomAD4 exome AF: 0.00000965 AC: 14AN: 1450408Hom.: 0 Cov.: 31 AF XY: 0.00000833 AC XY: 6AN XY: 720440
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.758G>A (p.G253D) alteration is located in exon 10 (coding exon 9) of the SGTA gene. This alteration results from a G to A substitution at nucleotide position 758, causing the glycine (G) at amino acid position 253 to be replaced by an aspartic acid (D). 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