NM_173855.5:c.414G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_173855.5(MORN3):c.414G>C(p.Glu138Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000873 in 1,602,772 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173855.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
MORN3 | ENST00000355329.7 | c.414G>C | p.Glu138Asp | missense_variant | Exon 3 of 6 | 1 | NM_173855.5 | ENSP00000347486.3 | ||
MORN3 | ENST00000542364.1 | n.414G>C | non_coding_transcript_exon_variant | Exon 4 of 6 | 1 | ENSP00000445643.1 | ||||
MORN3 | ENST00000392462.6 | n.414G>C | non_coding_transcript_exon_variant | Exon 3 of 5 | 3 | ENSP00000376255.2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152124Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000217 AC: 5AN: 230470Hom.: 0 AF XY: 0.0000322 AC XY: 4AN XY: 124162
GnomAD4 exome AF: 0.00000827 AC: 12AN: 1450648Hom.: 0 Cov.: 33 AF XY: 0.0000139 AC XY: 10AN XY: 720340
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152124Hom.: 0 Cov.: 30 AF XY: 0.0000269 AC XY: 2AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.414G>C (p.E138D) alteration is located in exon 3 (coding exon 3) of the MORN3 gene. This alteration results from a G to C substitution at nucleotide position 414, causing the glutamic acid (E) at amino acid position 138 to be replaced by an aspartic acid (D). 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