11-75720090-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_025098.4(MOGAT2):c.190C>A(p.Pro64Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000263 in 152,210 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025098.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MOGAT2 | NM_025098.4 | c.190C>A | p.Pro64Thr | missense_variant | Exon 2 of 6 | ENST00000198801.10 | NP_079374.2 | |
MOGAT2 | XM_011545267.2 | c.190C>A | p.Pro64Thr | missense_variant | Exon 2 of 6 | XP_011543569.1 | ||
MOGAT2 | XM_024448696.2 | c.-57C>A | 5_prime_UTR_variant | Exon 2 of 6 | XP_024304464.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MOGAT2 | ENST00000198801.10 | c.190C>A | p.Pro64Thr | missense_variant | Exon 2 of 6 | 1 | NM_025098.4 | ENSP00000198801.5 | ||
MOGAT2 | ENST00000526712 | c.-57C>A | 5_prime_UTR_variant | Exon 1 of 5 | 2 | ENSP00000436283.1 | ||||
MOGAT2 | ENST00000525093.5 | n.190C>A | non_coding_transcript_exon_variant | Exon 2 of 5 | 2 | ENSP00000436537.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251422Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135876
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.190C>A (p.P64T) alteration is located in exon 2 (coding exon 2) of the MOGAT2 gene. This alteration results from a C to A substitution at nucleotide position 190, causing the proline (P) at amino acid position 64 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