chr11-75798272-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM2PM4BP6_Moderate
The NM_032564.5(DGAT2):c.855C>A(p.Tyr285Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000596 in 1,614,190 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 Benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_032564.5 stop_gained
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DGAT2 | NM_032564.5 | c.855C>A | p.Tyr285Ter | stop_gained | 7/8 | ENST00000228027.12 | |
DGAT2 | NM_001253891.2 | c.726C>A | p.Tyr242Ter | stop_gained | 6/7 | ||
DGAT2 | XM_011545304.3 | c.765C>A | p.Tyr255Ter | stop_gained | 7/8 | ||
DGAT2 | XM_047427716.1 | c.582C>A | p.Tyr194Ter | stop_gained | 7/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DGAT2 | ENST00000228027.12 | c.855C>A | p.Tyr285Ter | stop_gained | 7/8 | 1 | NM_032564.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000506 AC: 77AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000509 AC: 128AN: 251442Hom.: 0 AF XY: 0.000478 AC XY: 65AN XY: 135894
GnomAD4 exome AF: 0.000605 AC: 885AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.000572 AC XY: 416AN XY: 727246
GnomAD4 genome ? AF: 0.000506 AC: 77AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.000443 AC XY: 33AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2022 | DGAT2: BS1, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at