chr8-17027314-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181723.3(MICU3):c.35C>T(p.Pro12Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000119 in 1,507,252 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_181723.3 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: 0.0000133 AC: 2AN: 150342Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000182 AC: 3AN: 164906Hom.: 0 AF XY: 0.0000106 AC XY: 1AN XY: 94098
GnomAD4 exome AF: 0.0000118 AC: 16AN: 1356910Hom.: 0 Cov.: 34 AF XY: 0.0000148 AC XY: 10AN XY: 674832
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150342Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73296
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.35C>T (p.P12L) alteration is located in exon 1 (coding exon 1) of the MICU3 gene. This alteration results from a C to T substitution at nucleotide position 35, causing the proline (P) at amino acid position 12 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