22-17817359-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015241.3(MICAL3):c.5302G>A(p.Ala1768Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,458,594 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015241.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MICAL3 | NM_015241.3 | c.5302G>A | p.Ala1768Thr | missense_variant | 26/32 | ENST00000441493.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MICAL3 | ENST00000441493.7 | c.5302G>A | p.Ala1768Thr | missense_variant | 26/32 | 5 | NM_015241.3 | P1 | |
MICAL3 | ENST00000577821.5 | c.133G>A | p.Ala45Thr | missense_variant | 1/8 | 3 | |||
MICAL3 | ENST00000579997.5 | c.67G>A | p.Ala23Thr | missense_variant | 1/6 | 5 | |||
MICAL3 | ENST00000672019.1 | c.*2249G>A | 3_prime_UTR_variant, NMD_transcript_variant | 27/33 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000414 AC: 1AN: 241614Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131858
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458594Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 725376
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 21, 2022 | The c.5302G>A (p.A1768T) alteration is located in exon 26 (coding exon 25) of the MICAL3 gene. This alteration results from a G to A substitution at nucleotide position 5302, causing the alanine (A) at amino acid position 1768 to be replaced by a threonine (T). 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