rs2293106
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_021116.4(ADCY1):c.3090G>A(p.Arg1030Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.155 in 780,528 control chromosomes in the GnomAD database, including 11,205 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_021116.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.197 AC: 29976AN: 152158Hom.: 3425 Cov.: 33
GnomAD3 exomes AF: 0.147 AC: 36842AN: 251350Hom.: 3315 AF XY: 0.142 AC XY: 19331AN XY: 135856
GnomAD4 exome AF: 0.145 AC: 91302AN: 628252Hom.: 7776 Cov.: 0 AF XY: 0.140 AC XY: 48050AN XY: 342276
GnomAD4 genome AF: 0.197 AC: 29989AN: 152276Hom.: 3429 Cov.: 33 AF XY: 0.192 AC XY: 14318AN XY: 74454
ClinVar
Submissions by phenotype
not provided Benign:2
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Autosomal recessive nonsyndromic hearing loss 44 Benign:1
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not specified Benign:1
p.Arg1030Arg in exon 20 of ADCY1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 31.47% (3265/10374 ) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs2293106). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at