chr10-1184934-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_018702.4(ADARB2):c.1970G>A(p.Arg657Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000701 in 1,613,926 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_018702.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADARB2 | NM_018702.4 | c.1970G>A | p.Arg657Gln | missense_variant | 9/10 | ENST00000381312.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADARB2 | ENST00000381312.6 | c.1970G>A | p.Arg657Gln | missense_variant | 9/10 | 1 | NM_018702.4 | P1 | |
LINC00200 | ENST00000655745.1 | n.264+24297C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00330 AC: 503AN: 152252Hom.: 4 Cov.: 34
GnomAD3 exomes AF: 0.00124 AC: 311AN: 250442Hom.: 6 AF XY: 0.00101 AC XY: 137AN XY: 135566
GnomAD4 exome AF: 0.000430 AC: 629AN: 1461556Hom.: 8 Cov.: 30 AF XY: 0.000381 AC XY: 277AN XY: 727110
GnomAD4 genome AF: 0.00330 AC: 503AN: 152370Hom.: 4 Cov.: 34 AF XY: 0.00334 AC XY: 249AN XY: 74518
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 27, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at