5-90558885-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032119.4(ADGRV1):c.-11G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000711 in 1,407,318 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032119.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.11e-7 AC: 1AN: 1407318Hom.: 0 Cov.: 30 AF XY: 0.00000144 AC XY: 1AN XY: 694808
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant classified as Uncertain Significance - Favor Benign. The -11G>A variant in GPR98 has not been reported in individuals affected with hearing loss or in l arge population studies. This variant is located in the 5'UTR. Although we cann ot rule out a deleterious impact on the regulation of splicing or translation of GPR98, to date no disease-causing variants have been found in this region of th e transcript. Furthermore, the nucleotide at this position is not highly conserv ed across species suggesting that a change may be tolerated. In summary, the cl inical significance of this variant cannot be determined with certainty at this time; however based upon the available data, we would lean towards a more likely benign role. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at