rs56180335
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_012079.6(DGAT1):c.579C>T(p.Gly193Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0631 in 1,610,914 control chromosomes in the GnomAD database, including 3,666 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_012079.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0462 AC: 7034AN: 152204Hom.: 232 Cov.: 33
GnomAD3 exomes AF: 0.0474 AC: 11711AN: 246882Hom.: 382 AF XY: 0.0482 AC XY: 6465AN XY: 134132
GnomAD4 exome AF: 0.0649 AC: 94590AN: 1458592Hom.: 3434 Cov.: 34 AF XY: 0.0636 AC XY: 46112AN XY: 725412
GnomAD4 genome AF: 0.0462 AC: 7032AN: 152322Hom.: 232 Cov.: 33 AF XY: 0.0442 AC XY: 3293AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at