rs41302834
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_032119.4(ADGRV1):c.5830G>A(p.Asp1944Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00588 in 1,613,812 control chromosomes in the GnomAD database, including 39 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_032119.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00431 AC: 655AN: 152050Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00433 AC: 1077AN: 248838Hom.: 5 AF XY: 0.00425 AC XY: 574AN XY: 134976
GnomAD4 exome AF: 0.00605 AC: 8840AN: 1461642Hom.: 34 Cov.: 33 AF XY: 0.00590 AC XY: 4292AN XY: 727098
GnomAD4 genome AF: 0.00430 AC: 655AN: 152170Hom.: 5 Cov.: 32 AF XY: 0.00407 AC XY: 303AN XY: 74384
ClinVar
Submissions by phenotype
not provided Benign:5
This variant is associated with the following publications: (PMID: 25262649, 21569298, 30245029, 32707200) -
ADGRV1: BS2 -
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not specified Benign:3
Asp1944Asn in exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (50/6688) of European American chromosomes in a broad population by the NHLBI Exome sequencing project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs41302834). -
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Usher syndrome type 2C Benign:2
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at