11-65961961-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005146.5(SART1):c.181G>A(p.Gly61Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000256 in 1,524,628 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SART1 | NM_005146.5 | c.181G>A | p.Gly61Ser | missense_variant | 1/20 | ENST00000312397.10 | |
SART1 | XM_047427856.1 | c.181G>A | p.Gly61Ser | missense_variant | 1/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SART1 | ENST00000312397.10 | c.181G>A | p.Gly61Ser | missense_variant | 1/20 | 1 | NM_005146.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000417 AC: 5AN: 119878Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 66012
GnomAD4 exome AF: 0.0000262 AC: 36AN: 1372442Hom.: 0 Cov.: 30 AF XY: 0.0000236 AC XY: 16AN XY: 676966
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at