rs6651585
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001034853.2(RPGR):c.29-15G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.151 in 1,202,845 control chromosomes in the GnomAD database, including 14,961 homozygotes. There are 59,659 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001034853.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.218 AC: 24233AN: 110988Hom.: 2741 Cov.: 22 AF XY: 0.216 AC XY: 7178AN XY: 33254
GnomAD3 exomes AF: 0.218 AC: 39354AN: 180770Hom.: 4600 AF XY: 0.201 AC XY: 13240AN XY: 65806
GnomAD4 exome AF: 0.144 AC: 156798AN: 1091805Hom.: 12211 Cov.: 29 AF XY: 0.146 AC XY: 52449AN XY: 359101
GnomAD4 genome AF: 0.219 AC: 24275AN: 111040Hom.: 2750 Cov.: 22 AF XY: 0.216 AC XY: 7210AN XY: 33316
ClinVar
Submissions by phenotype
not specified Benign:4
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c.29-15G>A in intron 1 of RPGR: This variant is not expected to have clinical si gnificance because it has been identified in 39.3% (1508/3833) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs6651585). -
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not provided Benign:2
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Primary ciliary dyskinesia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at