chr11-2390423-C-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_ModerateBP6_ModerateBP7
The NM_004356.4(CD81):c.78C>A(p.Gly26=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000904 in 1,612,354 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. G26G) has been classified as Likely benign.
Frequency
Consequence
NM_004356.4 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 |
---|---|---|---|---|---|---|---|
CD81 | NM_004356.4 | c.78C>A | p.Gly26= | synonymous_variant | 2/8 | ENST00000263645.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD81 | ENST00000263645.10 | c.78C>A | p.Gly26= | synonymous_variant | 2/8 | 1 | NM_004356.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000598 AC: 91AN: 152230Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00124 AC: 309AN: 250180Hom.: 1 AF XY: 0.00128 AC XY: 173AN XY: 135682
GnomAD4 exome AF: 0.000936 AC: 1367AN: 1460006Hom.: 9 Cov.: 30 AF XY: 0.000969 AC XY: 704AN XY: 726300
GnomAD4 genome ? AF: 0.000597 AC: 91AN: 152348Hom.: 1 Cov.: 33 AF XY: 0.000577 AC XY: 43AN XY: 74498
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 12, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at