chr10-1217086-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018702.4(ADARB2):c.1547G>A(p.Arg516His) variant causes a missense change. The variant allele was found at a frequency of 0.0000162 in 1,606,144 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R516G) has been classified as Uncertain significance.
Frequency
Consequence
NM_018702.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADARB2 | NM_018702.4 | c.1547G>A | p.Arg516His | missense_variant | 7/10 | ENST00000381312.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADARB2 | ENST00000381312.6 | c.1547G>A | p.Arg516His | missense_variant | 7/10 | 1 | NM_018702.4 | P1 | |
LINC00200 | ENST00000655745.1 | n.264+56449C>T | intron_variant, non_coding_transcript_variant | ||||||
ADARB2 | ENST00000469464.1 | n.331G>A | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000299 AC: 7AN: 234090Hom.: 0 AF XY: 0.0000316 AC XY: 4AN XY: 126528
GnomAD4 exome AF: 0.0000165 AC: 24AN: 1453942Hom.: 0 Cov.: 31 AF XY: 0.0000152 AC XY: 11AN XY: 722458
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 04, 2022 | The c.1547G>A (p.R516H) alteration is located in exon 7 (coding exon 7) of the ADARB2 gene. This alteration results from a G to A substitution at nucleotide position 1547, causing the arginine (R) at amino acid position 516 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