1-19622103-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001032363.4(MICOS10):c.68C>G(p.Thr23Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,611,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001032363.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MICOS10 | ENST00000322753.7 | c.68C>G | p.Thr23Ser | missense_variant | Exon 2 of 4 | 1 | NM_001032363.4 | ENSP00000325562.6 | ||
MICOS10-NBL1 | ENST00000602384.5 | n.47C>G | non_coding_transcript_exon_variant | Exon 2 of 10 | 5 | ENSP00000473550.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152052Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459078Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 725978
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152052Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74268
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.68C>G (p.T23S) alteration is located in exon 2 (coding exon 2) of the MINOS1 gene. This alteration results from a C to G substitution at nucleotide position 68, causing the threonine (T) at amino acid position 23 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