1-51760724-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_024586.6(OSBPL9):c.617C>T(p.Pro206Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000235 in 1,613,842 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_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: 0.000243 AC: 37AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000115 AC: 29AN: 251330Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135828
GnomAD4 exome AF: 0.000235 AC: 343AN: 1461584Hom.: 0 Cov.: 30 AF XY: 0.000198 AC XY: 144AN XY: 727106
GnomAD4 genome AF: 0.000243 AC: 37AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.000309 AC XY: 23AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.647C>T (p.P216L) alteration is located in exon 10 (coding exon 10) of the OSBPL9 gene. This alteration results from a C to T substitution at nucleotide position 647, causing the proline (P) at amino acid position 216 to be replaced by a leucine (L). 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