rs964942007
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_080627.4(MTCL2):c.4294C>T(p.Arg1432Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000026 in 1,540,952 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1432G) has been classified as Uncertain significance.
Frequency
Consequence
NM_080627.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
SOGA1 | ENST00000237536.9 | c.4294C>T | p.Arg1432Trp | missense_variant | Exon 14 of 15 | 5 | NM_080627.4 | ENSP00000237536.4 | ||
SOGA1 | ENST00000279034.10 | c.2993+587C>T | intron_variant | Intron 14 of 14 | 5 | ENSP00000279034.5 | ||||
SOGA1 | ENST00000465671.1 | n.3133C>T | non_coding_transcript_exon_variant | Exon 10 of 12 | 2 | ENSP00000433939.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152168Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1388666Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 685282
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74468
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at