rs760510612
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_032119.4(ADGRV1):c.8401G>A(p.Gly2801Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000502 in 1,613,176 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_032119.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000403 AC: 10AN: 248282Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134642
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1460982Hom.: 0 Cov.: 31 AF XY: 0.0000427 AC XY: 31AN XY: 726744
GnomAD4 genome AF: 0.000125 AC: 19AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74354
ClinVar
Submissions by phenotype
not provided Uncertain:3Benign:2
Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster predict this amino acid change may be damaging to the protein. -
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Identified in the heterozygous state in an individual with hearing loss who was also heterozygous for the R5703H variant in the ADGRV1 [GPR98] gene in published literature (Sloan-Heggen et al., 2016); however, familial segregation and additional clinical information is not known; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26969326) -
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Usher syndrome type 2C Pathogenic:1
Pathogenic according to Deafness Variation Database based on PMID:26969326. This p.(Gly2801Arg) variant was detected in a hearing impaired individual with a sloping audiogram, normal-to-severe HL, in compound heterozygossity with the p.(Arg5703His) pathogenic variant. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at