chr12-57696354-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006812.4(OS9):c.560C>T(p.Pro187Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000188 in 1,593,326 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006812.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000672 AC: 1AN: 148790Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249904Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135052
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1444536Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 718540
GnomAD4 genome AF: 0.00000672 AC: 1AN: 148790Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 72272
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.560C>T (p.P187L) alteration is located in exon 5 (coding exon 5) of the OS9 gene. This alteration results from a C to T substitution at nucleotide position 560, causing the proline (P) at amino acid position 187 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