11-118352416-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000073.3(CD3G):c.496C>G(p.Arg166Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,652 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R166Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000073.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD3G | NM_000073.3 | c.496C>G | p.Arg166Gly | missense_variant | 6/7 | ENST00000532917.3 | |
CD3G | XM_006718941.4 | c.496C>G | p.Arg166Gly | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD3G | ENST00000532917.3 | c.496C>G | p.Arg166Gly | missense_variant | 6/7 | 1 | NM_000073.3 | P1 | |
CD3G | ENST00000292144.8 | c.*553C>G | 3_prime_UTR_variant, NMD_transcript_variant | 7/8 | 1 | ||||
CD3G | ENST00000392883.6 | c.364C>G | p.Arg122Gly | missense_variant | 5/6 | 5 | |||
CD3G | ENST00000532903.1 | n.572C>G | non_coding_transcript_exon_variant | 7/8 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461652Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727156
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at