chr19-47320623-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001736.4(C5AR1):c.846C>G(p.Asp282Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000657 in 1,613,982 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001736.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C5AR1 | NM_001736.4 | c.846C>G | p.Asp282Glu | missense_variant | 2/2 | ENST00000355085.4 | |
C5AR1 | XM_047439300.1 | c.948C>G | p.Asp316Glu | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C5AR1 | ENST00000355085.4 | c.846C>G | p.Asp282Glu | missense_variant | 2/2 | 1 | NM_001736.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152174Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251398Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135880
GnomAD4 exome AF: 0.0000698 AC: 102AN: 1461808Hom.: 0 Cov.: 34 AF XY: 0.0000701 AC XY: 51AN XY: 727214
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152174Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 06, 2022 | The c.846C>G (p.D282E) alteration is located in exon 2 (coding exon 2) of the C5AR1 gene. This alteration results from a C to G substitution at nucleotide position 846, causing the aspartic acid (D) at amino acid position 282 to be replaced by a glutamic acid (E). 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