12-121653115-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173855.5(MORN3):c.608G>A(p.Arg203His) variant causes a missense change. The variant allele was found at a frequency of 0.0000285 in 1,613,902 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R203C) has been classified as Uncertain significance.
Frequency
Consequence
NM_173855.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
MORN3 | ENST00000355329.7 | c.608G>A | p.Arg203His | missense_variant | Exon 4 of 6 | 1 | NM_173855.5 | ENSP00000347486.3 | ||
MORN3 | ENST00000542364.1 | n.464-307G>A | intron_variant | Intron 4 of 5 | 1 | ENSP00000445643.1 | ||||
MORN3 | ENST00000392462.6 | n.464-307G>A | intron_variant | Intron 3 of 4 | 3 | ENSP00000376255.2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250622Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135520
GnomAD4 exome AF: 0.0000294 AC: 43AN: 1461592Hom.: 0 Cov.: 31 AF XY: 0.0000358 AC XY: 26AN XY: 727072
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.608G>A (p.R203H) alteration is located in exon 4 (coding exon 4) of the MORN3 gene. This alteration results from a G to A substitution at nucleotide position 608, causing the arginine (R) at amino acid position 203 to be replaced by a histidine (H). 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