2-86790452-C-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001768.7(CD8A):c.279G>A(p.Arg93Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0712 in 1,614,066 control chromosomes in the GnomAD database, including 4,521 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001768.7 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: 0.0698 AC: 10620AN: 152200Hom.: 406 Cov.: 32
GnomAD3 exomes AF: 0.0573 AC: 14392AN: 250974Hom.: 532 AF XY: 0.0561 AC XY: 7622AN XY: 135826
GnomAD4 exome AF: 0.0714 AC: 104343AN: 1461748Hom.: 4115 Cov.: 34 AF XY: 0.0699 AC XY: 50815AN XY: 727184
GnomAD4 genome AF: 0.0698 AC: 10631AN: 152318Hom.: 406 Cov.: 32 AF XY: 0.0671 AC XY: 5001AN XY: 74488
ClinVar
Submissions by phenotype
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: MAF -
Susceptibility to respiratory infections associated with CD8alpha chain mutation Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at