chr7-101196002-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_178176.4(MOGAT3):c.970G>C(p.Glu324Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000812 in 1,614,088 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178176.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MOGAT3 | ENST00000223114.9 | c.970G>C | p.Glu324Gln | missense_variant | Exon 7 of 7 | 1 | NM_178176.4 | ENSP00000223114.4 | ||
MOGAT3 | ENST00000379423.3 | c.767G>C | p.Arg256Pro | missense_variant | Exon 6 of 6 | 1 | ENSP00000368734.3 | |||
MOGAT3 | ENST00000440203 | c.*21G>C | 3_prime_UTR_variant | Exon 6 of 6 | 2 | ENSP00000403756.2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000159 AC: 40AN: 250964Hom.: 2 AF XY: 0.000236 AC XY: 32AN XY: 135754
GnomAD4 exome AF: 0.0000855 AC: 125AN: 1461868Hom.: 2 Cov.: 31 AF XY: 0.000129 AC XY: 94AN XY: 727236
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74412
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.970G>C (p.E324Q) alteration is located in exon 7 (coding exon 7) of the MOGAT3 gene. This alteration results from a G to C substitution at nucleotide position 970, causing the glutamic acid (E) at amino acid position 324 to be replaced by a glutamine (Q). 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