rs376376418
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032119.4(ADGRV1):c.15145G>A(p.Ala5049Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,613,640 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248492Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134806
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461372Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 726930
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152268Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74454
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
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not specified Uncertain:1
The p.Ala5049Thr variant in GPR98 has not been previously reported in individual s with hearing loss. This variant has been identified in 6/115918 of the total c hromosomes in the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs376376418). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. Computa tional prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance o f the p.Ala5049Thr variant is uncertain. -
Febrile seizures, familial, 4;C2931213:Usher syndrome type 2C Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at