rs79304843
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_004371.4(COPA):c.1741C>T(p.Leu581Leu) variant causes a synonymous change. The variant allele was found at a frequency of 0.0311 in 1,614,114 control chromosomes in the GnomAD database, including 875 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_004371.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0254 AC: 3870AN: 152128Hom.: 51 Cov.: 32
GnomAD3 exomes AF: 0.0251 AC: 6324AN: 251458Hom.: 96 AF XY: 0.0268 AC XY: 3643AN XY: 135906
GnomAD4 exome AF: 0.0317 AC: 46356AN: 1461866Hom.: 824 Cov.: 33 AF XY: 0.0320 AC XY: 23269AN XY: 727238
GnomAD4 genome AF: 0.0254 AC: 3871AN: 152248Hom.: 51 Cov.: 32 AF XY: 0.0242 AC XY: 1802AN XY: 74434
ClinVar
Submissions by phenotype
not specified Benign:2
- -
- -
not provided Benign:1Other:1
- -
Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. -
Autoimmune interstitial lung disease-arthritis syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at