rs6670735

Variant names:

• chr1-182673722-T-C
• rs6670735
• NM_001102450.3:c.-291-790A>G

Your query was ambiguous. Multiple possible variants found:

• chr1-182673722-T-C
• chr1-182673722-T-G

Variant summary

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

The NM_001102450.3(RGS8):​c.-291-790A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.28 in 152,164 control chromosomes in the GnomAD database, including 7,437 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 0.28 (7437 hom., cov: 32)
• Consequence: RGS8 NM_001102450.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.272
• Publications: 2 publications found

Genes affected

RGS8 (HGNC:16810): (regulator of G protein signaling 8) This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [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=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.379 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
RGS8	NM_001102450.3	c.-291-790A>G		intron_variant	Intron 1 of 7	ENST00000515211.2	NP_001095920.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RGS8	ENST00000515211.2	c.-291-790A>G		intron_variant	Intron 1 of 7	4	NM_001102450.3	ENSP00000511884.1

Frequencies

GnomAD3 genomes AF: 0.280 AC: 42593 AN: 152046 Hom.: 7440 Cov.: 32

Gnomad AFR AF: 0.0678

Gnomad AMI AF: 0.271

Gnomad AMR AF: 0.324

Gnomad ASJ AF: 0.335

Gnomad EAS AF: 0.132

Gnomad SAS AF: 0.332

Gnomad FIN AF: 0.421

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.382

Gnomad OTH AF: 0.286

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

GnomAD4 genome AF: 0.280 AC: 42594 AN: 152164 Hom.: 7437 Cov.: 32 AF XY: 0.283 AC XY: 21054 AN XY: 74396

African (AFR) AF: 0.0676 AC: 2809 AN: 41548

American (AMR) AF: 0.324 AC: 4955 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.335 AC: 1163 AN: 3470

East Asian (EAS) AF: 0.132 AC: 685 AN: 5180

South Asian (SAS) AF: 0.331 AC: 1596 AN: 4816

European-Finnish (FIN) AF: 0.421 AC: 4454 AN: 10570

Middle Eastern (MID) AF: 0.259 AC: 76 AN: 294

European-Non Finnish (NFE) AF: 0.382 AC: 26002 AN: 67982

Other (OTH) AF: 0.288 AC: 607 AN: 2110

Alfa AF: 0.349 Hom.: 15236

Bravo AF: 0.258

Asia WGS AF: 0.242 AC: 840 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	2.6
DANN	Benign	0.67
PhyloP100		-0.27

Splicing

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

Other links and lift over

dbSNP: rs6670735; hg19: chr1-182642857;