rs6997046

Variant names:

• chr8-18356334-G-A
• rs6997046

Variant summary

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

The variant allele was found at a frequency of 0.227 in 152,016 control chromosomes in the GnomAD database, including 4,755 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 0.23 (4755 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00200
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.382 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.227 AC: 34468 AN: 151898 Hom.: 4746 Cov.: 32

Gnomad AFR AF: 0.388

Gnomad AMI AF: 0.141

Gnomad AMR AF: 0.172

Gnomad ASJ AF: 0.133

Gnomad EAS AF: 0.330

Gnomad SAS AF: 0.164

Gnomad FIN AF: 0.213

Gnomad MID AF: 0.182

Gnomad NFE AF: 0.147

Gnomad OTH AF: 0.201

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

GnomAD4 genome AF: 0.227 AC: 34511 AN: 152016 Hom.: 4755 Cov.: 32 AF XY: 0.229 AC XY: 16986 AN XY: 74302

African (AFR) AF: 0.387 AC: 16056 AN: 41440

American (AMR) AF: 0.172 AC: 2626 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.133 AC: 461 AN: 3468

East Asian (EAS) AF: 0.330 AC: 1702 AN: 5158

South Asian (SAS) AF: 0.164 AC: 792 AN: 4822

European-Finnish (FIN) AF: 0.213 AC: 2251 AN: 10564

Middle Eastern (MID) AF: 0.171 AC: 50 AN: 292

European-Non Finnish (NFE) AF: 0.147 AC: 10012 AN: 67986

Other (OTH) AF: 0.205 AC: 433 AN: 2116

Alfa AF: 0.187 Hom.: 1410

Bravo AF: 0.232

Asia WGS AF: 0.277 AC: 967 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.5
DANN	Benign	0.63
PhyloP100		0.0020

Splicing

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

Other links and lift over

dbSNP: rs6997046; hg19: chr8-18213843;