ENST00000561815.5:c.100A>C
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1
The ENST00000561815.5(CORO1A):c.100A>C(p.Arg34Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0216 in 424,950 control chromosomes in the GnomAD database, including 1,054 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
ENST00000561815.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Frequencies
GnomAD3 genomes AF: 0.0169 AC: 2562AN: 152034Hom.: 214 Cov.: 32
GnomAD3 exomes AF: 0.0561 AC: 5628AN: 100370Hom.: 717 AF XY: 0.0424 AC XY: 2387AN XY: 56354
GnomAD4 exome AF: 0.0242 AC: 6615AN: 272798Hom.: 839 Cov.: 0 AF XY: 0.0185 AC XY: 2905AN XY: 157432
GnomAD4 genome AF: 0.0169 AC: 2567AN: 152152Hom.: 215 Cov.: 32 AF XY: 0.0191 AC XY: 1419AN XY: 74398
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 28% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at