5-90914007-C-T

Position:

• chr5-90914007-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_032119.4(ADGRV1):​c.17856+50150C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.742 in 152,078 control chromosomes in the GnomAD database, including 42,268 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.74 (42268 hom., cov: 31)
• Consequence: ADGRV1 NM_032119.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.269

Genes affected

ADGRV1 (HGNC:17416): (adhesion G protein-coupled receptor V1) This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]

ADGRV1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.975 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ADGRV1	NM_032119.4	c.17856+50150C>T		intron_variant		ENST00000405460.9	NP_115495.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ADGRV1	ENST00000405460.9	c.17856+50150C>T		intron_variant		1	NM_032119.4	ENSP00000384582.2

Frequencies

GnomAD3 genomes AF: 0.742 AC: 112772 AN: 151960 Hom.: 42231 Cov.: 31

Gnomad AFR AF: 0.759

Gnomad AMI AF: 0.708

Gnomad AMR AF: 0.836

Gnomad ASJ AF: 0.656

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.853

Gnomad FIN AF: 0.692

Gnomad MID AF: 0.775

Gnomad NFE AF: 0.695

Gnomad OTH AF: 0.767

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.742 AC: 112871 AN: 152078 Hom.: 42268 Cov.: 31 AF XY: 0.749 AC XY: 55655 AN XY: 74330

Gnomad4 AFR AF: 0.759

Gnomad4 AMR AF: 0.836

Gnomad4 ASJ AF: 0.656

Gnomad4 EAS AF: 0.998

Gnomad4 SAS AF: 0.851

Gnomad4 FIN AF: 0.692

Gnomad4 NFE AF: 0.695

Gnomad4 OTH AF: 0.770

Alfa AF: 0.711 Hom.: 79589

Bravo AF: 0.751

Asia WGS AF: 0.922 AC: 3203 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.68
DANN	Benign	0.49

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs10074525; hg19: chr5-90209824;