rs3747411
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005314.3(GRPR):c.*309T>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.261 in 315,016 control chromosomes in the GnomAD database, including 8,687 homozygotes. There are 22,583 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005314.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.230 AC: 25769AN: 111961Hom.: 2584 Cov.: 23 AF XY: 0.222 AC XY: 7568AN XY: 34141
GnomAD4 exome AF: 0.278 AC: 56456AN: 203001Hom.: 6106 Cov.: 0 AF XY: 0.290 AC XY: 15010AN XY: 51791
GnomAD4 genome AF: 0.230 AC: 25756AN: 112015Hom.: 2581 Cov.: 23 AF XY: 0.221 AC XY: 7573AN XY: 34205
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at