11-65961949-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005146.5(SART1):c.169C>T(p.Arg57Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00019 in 1,525,196 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152078Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000890 AC: 11AN: 123608Hom.: 0 AF XY: 0.0000736 AC XY: 5AN XY: 67908
GnomAD4 exome AF: 0.000199 AC: 273AN: 1373118Hom.: 0 Cov.: 29 AF XY: 0.000193 AC XY: 131AN XY: 677624
GnomAD4 genome AF: 0.000112 AC: 17AN: 152078Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.169C>T (p.R57W) alteration is located in exon 1 (coding exon 1) of the SART1 gene. This alteration results from a C to T substitution at nucleotide position 169, causing the arginine (R) at amino acid position 57 to be replaced by a tryptophan (W). 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