chr10-1184875-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018702.4(ADARB2):c.2029C>T(p.Arg677Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000158 in 1,613,248 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. R677Q) 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.2029C>T | p.Arg677Trp | missense_variant | 9/10 | ENST00000381312.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADARB2 | ENST00000381312.6 | c.2029C>T | p.Arg677Trp | missense_variant | 9/10 | 1 | NM_018702.4 | P1 | |
LINC00200 | ENST00000655745.1 | n.264+24238G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000151 AC: 23AN: 152240Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000273 AC: 68AN: 248746Hom.: 0 AF XY: 0.000319 AC XY: 43AN XY: 134814
GnomAD4 exome AF: 0.000159 AC: 232AN: 1461008Hom.: 0 Cov.: 30 AF XY: 0.000188 AC XY: 137AN XY: 726798
GnomAD4 genome ? AF: 0.000151 AC: 23AN: 152240Hom.: 0 Cov.: 34 AF XY: 0.000134 AC XY: 10AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 29, 2023 | The c.2029C>T (p.R677W) alteration is located in exon 9 (coding exon 9) of the ADARB2 gene. This alteration results from a C to T substitution at nucleotide position 2029, causing the arginine (R) at amino acid position 677 to be replaced by a tryptophan (W). 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