chr11-75800480-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032564.5(DGAT2):c.1139C>A(p.Pro380Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,613,936 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DGAT2 | NM_032564.5 | c.1139C>A | p.Pro380Gln | missense_variant | 8/8 | ENST00000228027.12 | |
DGAT2 | NM_001253891.2 | c.1010C>A | p.Pro337Gln | missense_variant | 7/7 | ||
DGAT2 | XM_011545304.3 | c.1049C>A | p.Pro350Gln | missense_variant | 8/8 | ||
DGAT2 | XM_047427716.1 | c.866C>A | p.Pro289Gln | missense_variant | 8/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DGAT2 | ENST00000228027.12 | c.1139C>A | p.Pro380Gln | missense_variant | 8/8 | 1 | NM_032564.5 | P1 | |
DGAT2 | ENST00000376262.7 | c.1010C>A | p.Pro337Gln | missense_variant | 7/7 | 1 | |||
DGAT2 | ENST00000603363.5 | n.4879C>A | non_coding_transcript_exon_variant | 4/4 | 2 | ||||
DGAT2 | ENST00000603865.1 | n.2526C>A | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250926Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135632
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461748Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727150
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74348
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 14, 2022 | The c.1139C>A (p.P380Q) alteration is located in exon 8 (coding exon 8) of the DGAT2 gene. This alteration results from a C to A substitution at nucleotide position 1139, causing the proline (P) at amino acid position 380 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