3-119527781-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005191.4(CD80):c.857G>A(p.Arg286His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,613,538 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R286C) has been classified as Uncertain significance.
Frequency
Consequence
NM_005191.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CD80 | ENST00000264246.8 | c.857G>A | p.Arg286His | missense_variant | Exon 6 of 7 | 1 | NM_005191.4 | ENSP00000264246.3 | ||
CD80 | ENST00000478182.5 | c.857G>A | p.Arg286His | missense_variant | Exon 6 of 6 | 1 | ENSP00000418364.1 | |||
CD80 | ENST00000383669.3 | c.761G>A | p.Arg254His | missense_variant | Exon 4 of 4 | 1 | ENSP00000373165.3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251340Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135836
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461384Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 727034
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.857G>A (p.R286H) alteration is located in exon 6 (coding exon 5) of the CD80 gene. This alteration results from a G to A substitution at nucleotide position 857, causing the arginine (R) at amino acid position 286 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at