2-19353360-G-T
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_145260.3(OSR1):c.446C>A(p.Ala149Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000397 in 1,614,088 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145260.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152246Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000636 AC: 16AN: 251380 AF XY: 0.0000662 show subpopulations
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461842Hom.: 2 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 727226 show subpopulations
GnomAD4 genome AF: 0.000131 AC: 20AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.000202 AC XY: 15AN XY: 74388 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.446C>A (p.A149D) alteration is located in exon 2 (coding exon 1) of the OSR1 gene. This alteration results from a C to A substitution at nucleotide position 446, causing the alanine (A) at amino acid position 149 to be replaced by an aspartic acid (D). 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