5-90684054-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 1P and 13B. PP3BP4_StrongBP6BS1BS2
The NM_032119.4(ADGRV1):c.6133G>A(p.Gly2045Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00628 in 1,613,882 control chromosomes in the GnomAD database, including 50 homozygotes. In-silico tool predicts a benign 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00462 AC: 702AN: 152104Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00426 AC: 1058AN: 248490Hom.: 6 AF XY: 0.00425 AC XY: 573AN XY: 134858
GnomAD4 exome AF: 0.00646 AC: 9441AN: 1461660Hom.: 48 Cov.: 34 AF XY: 0.00631 AC XY: 4585AN XY: 727106
GnomAD4 genome AF: 0.00461 AC: 702AN: 152222Hom.: 2 Cov.: 32 AF XY: 0.00437 AC XY: 325AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:8
- -
This variant is associated with the following publications: (PMID: 24498627, 30245029, 32707200) -
- -
- -
- -
ADGRV1: BS2 -
- -
- -
not specified Benign:4
- -
- -
p.Gly2045Arg in exon 28 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.7% (480/67628) of European chro mosomes by the Exome Aggregation Consortium, including one homozygote (ExAC, htt p://exac.broadinstitute.org; dbSNP rs41308846). -
- -
Usher syndrome type 2C Benign:2
- -
- -
Febrile seizures, familial, 4 Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at