11-65965356-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_005146.5(SART1):c.569T>G(p.Leu190Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000314 in 1,591,074 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005146.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000474 AC: 1AN: 210926Hom.: 0 AF XY: 0.00000878 AC XY: 1AN XY: 113882
GnomAD4 exome AF: 0.00000278 AC: 4AN: 1438934Hom.: 0 Cov.: 34 AF XY: 0.00000420 AC XY: 3AN XY: 713896
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.569T>G (p.L190R) alteration is located in exon 5 (coding exon 5) of the SART1 gene. This alteration results from a T to G substitution at nucleotide position 569, causing the leucine (L) at amino acid position 190 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