rs2229239
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001768.7(CD8A):c.192C>T(p.Ala64=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,438 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. A64A) has been classified as Benign.
Frequency
Consequence
NM_001768.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD8A | NM_001768.7 | c.192C>T | p.Ala64= | synonymous_variant | 2/6 | ENST00000283635.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD8A | ENST00000283635.8 | c.192C>T | p.Ala64= | synonymous_variant | 2/6 | 1 | NM_001768.7 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245704Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133994
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461286Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726976
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152152Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74326
ClinVar
Submissions by phenotype
Susceptibility to respiratory infections associated with CD8alpha chain mutation Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Mar 23, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at