chr8-144316566-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_012079.6(DGAT1):c.1455G>A(p.Ala485=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000416 in 1,443,962 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A485A) has been classified as Likely benign.
Frequency
Consequence
NM_012079.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DGAT1 | NM_012079.6 | c.1455G>A | p.Ala485= | synonymous_variant | 17/17 | ENST00000528718.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DGAT1 | ENST00000528718.6 | c.1455G>A | p.Ala485= | synonymous_variant | 17/17 | 1 | NM_012079.6 | P1 | |
DGAT1 | ENST00000332324.5 | c.*10G>A | 3_prime_UTR_variant | 10/10 | 5 | ||||
DGAT1 | ENST00000524965.5 | n.1090G>A | non_coding_transcript_exon_variant | 12/12 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000416 AC: 6AN: 1443962Hom.: 0 Cov.: 33 AF XY: 0.00000279 AC XY: 2AN XY: 716472
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 16, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at