chr8-17027613-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181723.3(MICU3):c.334C>A(p.Arg112Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000106 in 1,310,048 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MICU3 | NM_181723.3 | c.334C>A | p.Arg112Ser | missense_variant | 1/15 | ENST00000318063.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MICU3 | ENST00000318063.10 | c.334C>A | p.Arg112Ser | missense_variant | 1/15 | 1 | NM_181723.3 | P1 | |
MICU3 | ENST00000522235.5 | n.36C>A | non_coding_transcript_exon_variant | 1/3 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152152Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000113 AC: 131AN: 1157896Hom.: 0 Cov.: 34 AF XY: 0.000113 AC XY: 63AN XY: 558526
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152152Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2022 | The c.334C>A (p.R112S) alteration is located in exon 1 (coding exon 1) of the MICU3 gene. This alteration results from a C to A substitution at nucleotide position 334, causing the arginine (R) at amino acid position 112 to be replaced by a serine (S). 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