rs187207981
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032564.5(DGAT2):c.455C>A(p.Thr152Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,786 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. T152I) has been classified as Uncertain significance.
Frequency
Consequence
NM_032564.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DGAT2 | NM_032564.5 | c.455C>A | p.Thr152Asn | missense_variant | Exon 5 of 8 | ENST00000228027.12 | NP_115953.2 | |
DGAT2 | NM_001253891.2 | c.326C>A | p.Thr109Asn | missense_variant | Exon 4 of 7 | NP_001240820.1 | ||
DGAT2 | XM_011545304.3 | c.365C>A | p.Thr122Asn | missense_variant | Exon 5 of 8 | XP_011543606.1 | ||
DGAT2 | XM_047427716.1 | c.182C>A | p.Thr61Asn | missense_variant | Exon 5 of 8 | XP_047283672.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461786Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727184
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.