rs893184
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_130786.4(A1BG):āc.155A>Gā(p.His52Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.931 in 1,614,066 control chromosomes in the GnomAD database, including 701,710 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_130786.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
A1BG | NM_130786.4 | c.155A>G | p.His52Arg | missense_variant | 3/8 | ENST00000263100.8 | NP_570602.2 | |
A1BG-AS1 | NR_015380.2 | n.1075+69T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
A1BG | ENST00000263100.8 | c.155A>G | p.His52Arg | missense_variant | 3/8 | 1 | NM_130786.4 | ENSP00000263100.2 |
Frequencies
GnomAD3 genomes AF: 0.888 AC: 135122AN: 152132Hom.: 60581 Cov.: 34
GnomAD3 exomes AF: 0.904 AC: 227293AN: 251396Hom.: 103327 AF XY: 0.910 AC XY: 123691AN XY: 135898
GnomAD4 exome AF: 0.935 AC: 1367519AN: 1461816Hom.: 641117 Cov.: 83 AF XY: 0.935 AC XY: 679810AN XY: 727214
GnomAD4 genome AF: 0.888 AC: 135180AN: 152250Hom.: 60593 Cov.: 34 AF XY: 0.888 AC XY: 66106AN XY: 74424
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at