rs3748069
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_198569.3(ADGRG6):c.*2981A>G variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.391 in 152,036 control chromosomes in the GnomAD database, including 13,122 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 0.39 ( 13122 hom., cov: 32)
Consequence
ADGRG6
NM_198569.3 downstream_gene
NM_198569.3 downstream_gene
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.817
Genes affected
ADGRG6 (HGNC:13841): (adhesion G protein-coupled receptor G6) This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.599 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADGRG6 | ENST00000367609.8 | c.*2981A>G | downstream_gene_variant | 1 | NM_198569.3 | ENSP00000356581.3 | ||||
ADGRG6 | ENST00000367608.6 | c.*2981A>G | downstream_gene_variant | 1 | ENSP00000356580.2 | |||||
ADGRG6 | ENST00000230173.10 | c.*3114A>G | downstream_gene_variant | 1 | ENSP00000230173.6 | |||||
ADGRG6 | ENST00000296932.13 | c.*3114A>G | downstream_gene_variant | 1 | ENSP00000296932.8 |
Frequencies
GnomAD3 genomes AF: 0.391 AC: 59401AN: 151918Hom.: 13092 Cov.: 32
GnomAD3 genomes
AF:
AC:
59401
AN:
151918
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.391 AC: 59488AN: 152036Hom.: 13122 Cov.: 32 AF XY: 0.389 AC XY: 28873AN XY: 74298
GnomAD4 genome
AF:
AC:
59488
AN:
152036
Hom.:
Cov.:
32
AF XY:
AC XY:
28873
AN XY:
74298
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
1492
AN:
3476
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at