9-122169750-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198469.4(MORN5):c.301C>A(p.Pro101Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000038 in 1,607,378 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198469.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MORN5 | NM_198469.4 | c.301C>A | p.Pro101Thr | missense_variant | Exon 3 of 5 | ENST00000373764.8 | NP_940871.2 | |
MORN5 | NM_001286828.2 | c.195+2835C>A | intron_variant | Intron 2 of 3 | NP_001273757.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251408Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135878
GnomAD4 exome AF: 0.0000295 AC: 43AN: 1455216Hom.: 0 Cov.: 28 AF XY: 0.0000304 AC XY: 22AN XY: 724532
GnomAD4 genome AF: 0.000118 AC: 18AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.301C>A (p.P101T) alteration is located in exon 3 (coding exon 3) of the MORN5 gene. This alteration results from a C to A substitution at nucleotide position 301, causing the proline (P) at amino acid position 101 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