chr6-68947116-G-A

Variant names:

• chr6-68947116-G-A
• rs1932615
• NM_001704.3:c.1195+3122G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001704.3(ADGRB3):​c.1195+3122G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.331 in 151,904 control chromosomes in the GnomAD database, including 9,440 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 0.33 (9440 hom., cov: 31)
• Consequence: ADGRB3 NM_001704.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.711
• Publications: 3 publications found

Genes affected

ADGRB3 (HGNC:945): (adhesion G protein-coupled receptor B3) This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.425 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ADGRB3	NM_001704.3	c.1195+3122G>A		intron_variant	Intron 6 of 31	ENST00000370598.6	NP_001695.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ADGRB3	ENST00000370598.6	c.1195+3122G>A		intron_variant	Intron 6 of 31	1	NM_001704.3	ENSP00000359630.1
ADGRB3	ENST00000546190.5	c.1195+3122G>A		intron_variant	Intron 4 of 29	1		ENSP00000441821.2
ADGRB3	ENST00000684661.1	n.1195+3122G>A		intron_variant	Intron 6 of 31			ENSP00000507613.1

Frequencies

GnomAD3 genomes AF: 0.332 AC: 50338 AN: 151786 Hom.: 9439 Cov.: 31

Gnomad AFR AF: 0.190

Gnomad AMI AF: 0.421

Gnomad AMR AF: 0.303

Gnomad ASJ AF: 0.585

Gnomad EAS AF: 0.124

Gnomad SAS AF: 0.291

Gnomad FIN AF: 0.314

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.429

Gnomad OTH AF: 0.384

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

GnomAD4 genome AF: 0.331 AC: 50339 AN: 151904 Hom.: 9440 Cov.: 31 AF XY: 0.326 AC XY: 24228 AN XY: 74232

African (AFR) AF: 0.190 AC: 7889 AN: 41454

American (AMR) AF: 0.302 AC: 4599 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.585 AC: 2028 AN: 3468

East Asian (EAS) AF: 0.124 AC: 642 AN: 5164

South Asian (SAS) AF: 0.291 AC: 1402 AN: 4810

European-Finnish (FIN) AF: 0.314 AC: 3323 AN: 10566

Middle Eastern (MID) AF: 0.531 AC: 155 AN: 292

European-Non Finnish (NFE) AF: 0.429 AC: 29119 AN: 67902

Other (OTH) AF: 0.379 AC: 798 AN: 2104

Alfa AF: 0.409 Hom.: 13058

Bravo AF: 0.326

Asia WGS AF: 0.178 AC: 620 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.41
DANN	Benign	0.60
PhyloP100		-0.71
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs1932615; hg19: chr6-69657008;