chr6-71289016-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024576.5(OGFRL1):c.80C>T(p.Ser27Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000044 in 1,364,970 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_024576.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000136 AC: 2AN: 147232Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000665 AC: 1AN: 150408Hom.: 0 AF XY: 0.0000116 AC XY: 1AN XY: 86522
GnomAD4 exome AF: 0.00000328 AC: 4AN: 1217738Hom.: 0 Cov.: 29 AF XY: 0.00000165 AC XY: 1AN XY: 604548
GnomAD4 genome AF: 0.0000136 AC: 2AN: 147232Hom.: 0 Cov.: 31 AF XY: 0.0000140 AC XY: 1AN XY: 71678
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.80C>T (p.S27L) alteration is located in exon 1 (coding exon 1) of the OGFRL1 gene. This alteration results from a C to T substitution at nucleotide position 80, causing the serine (S) at amino acid position 27 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