NM_001768.7:c.171C>G
Variant summary
Our verdict is Likely benign. The variant received -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001768.7(CD8A):c.171C>G(p.Leu57Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,613,230 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. L57L) has been classified as Benign.
Frequency
Consequence
NM_001768.7 synonymous
Scores
Clinical Significance
Conservation
Publications
- susceptibility to respiratory infections associated with CD8alpha chain mutationInheritance: AR Classification: STRONG, SUPPORTIVE, LIMITED Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae), Orphanet, ClinGen
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ACMG classification
Our verdict: Likely_benign. The variant received -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152226Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.00000813 AC: 2AN: 245882 AF XY: 0.0000149 show subpopulations
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461004Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 726842 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152226Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74368 show subpopulations
ClinVar
Submissions by phenotype
Susceptibility to respiratory infections associated with CD8alpha chain mutation Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at