11-75727445-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_025098.4(MOGAT2):c.281C>A(p.Thr94Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,870 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MOGAT2 | NM_025098.4 | c.281C>A | p.Thr94Asn | missense_variant | Exon 3 of 6 | ENST00000198801.10 | NP_079374.2 | |
MOGAT2 | XM_011545267.2 | c.281C>A | p.Thr94Asn | missense_variant | Exon 3 of 6 | XP_011543569.1 | ||
MOGAT2 | XM_024448696.2 | c.35C>A | p.Thr12Asn | missense_variant | Exon 3 of 6 | XP_024304464.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MOGAT2 | ENST00000198801.10 | c.281C>A | p.Thr94Asn | missense_variant | Exon 3 of 6 | 1 | NM_025098.4 | ENSP00000198801.5 | ||
MOGAT2 | ENST00000526712.1 | c.35C>A | p.Thr12Asn | missense_variant | Exon 2 of 5 | 2 | ENSP00000436283.1 | |||
MOGAT2 | ENST00000525093.5 | n.281C>A | non_coding_transcript_exon_variant | Exon 3 of 5 | 2 | ENSP00000436537.1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251072Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135710
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461692Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727146
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.281C>A (p.T94N) alteration is located in exon 3 (coding exon 3) of the MOGAT2 gene. This alteration results from a C to A substitution at nucleotide position 281, causing the threonine (T) at amino acid position 94 to be replaced by an asparagine (N). 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