1-51772174-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_024586.6(OSBPL9):c.1043G>A(p.Ser348Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000087 in 1,609,114 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024586.6 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: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249082Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134636
GnomAD4 exome AF: 0.00000824 AC: 12AN: 1456940Hom.: 0 Cov.: 29 AF XY: 0.00000966 AC XY: 7AN XY: 725002
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1073G>A (p.S358N) alteration is located in exon 13 (coding exon 13) of the OSBPL9 gene. This alteration results from a G to A substitution at nucleotide position 1073, causing the serine (S) at amino acid position 358 to be replaced by an asparagine (N). 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