17-63929440-G-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000626.4(CD79B):c.585C>G(p.Thr195=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,690 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 (★).
Frequency
Consequence
NM_000626.4 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 |
---|---|---|---|---|---|---|---|
CD79B | NM_000626.4 | c.585C>G | p.Thr195= | synonymous_variant | 5/6 | ENST00000006750.8 | |
CD79B | NM_001039933.3 | c.588C>G | p.Thr196= | synonymous_variant | 5/6 | ||
CD79B | NM_001329050.2 | c.276C>G | p.Thr92= | synonymous_variant | 4/5 | ||
CD79B | NM_021602.4 | c.273C>G | p.Thr91= | synonymous_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD79B | ENST00000006750.8 | c.585C>G | p.Thr195= | synonymous_variant | 5/6 | 1 | NM_000626.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461690Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727138
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Agammaglobulinemia 6, autosomal recessive Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 07, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.