chr10-1233838-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018702.4(ADARB2):c.1369C>A(p.Arg457Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000855 in 1,613,410 control chromosomes in the GnomAD database, including 1 homozygotes. 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. R457C) 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADARB2 | NM_018702.4 | c.1369C>A | p.Arg457Ser | missense_variant | 6/10 | ENST00000381312.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADARB2 | ENST00000381312.6 | c.1369C>A | p.Arg457Ser | missense_variant | 6/10 | 1 | NM_018702.4 | P1 | |
LINC00200 | ENST00000655745.1 | n.265-54635G>T | intron_variant, non_coding_transcript_variant | ||||||
ADARB2 | ENST00000469464.1 | n.153C>A | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000178 AC: 27AN: 152052Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000678 AC: 17AN: 250614Hom.: 0 AF XY: 0.0000738 AC XY: 10AN XY: 135470
GnomAD4 exome AF: 0.0000766 AC: 112AN: 1461240Hom.: 1 Cov.: 33 AF XY: 0.000100 AC XY: 73AN XY: 726904
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 152170Hom.: 0 Cov.: 30 AF XY: 0.000202 AC XY: 15AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 05, 2023 | The c.1369C>A (p.R457S) alteration is located in exon 6 (coding exon 6) of the ADARB2 gene. This alteration results from a C to A substitution at nucleotide position 1369, causing the arginine (R) at amino acid position 457 to be replaced by a serine (S). 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